Pituitary Hormone Deficiency, Combined, 1; Cphd1

Description

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH ) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL ), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH ), and follicle-stimulating hormone (FSH ) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (OMIM ), associated with hypogonadism, is caused by mutation in the PROP1 gene (OMIM ). CPHD3 (OMIM ), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (OMIM ). CPHD4 (OMIM ) is caused by mutation in the LHX4 gene (OMIM ). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene (OMIM ). CPHD6 (OMIM ) is caused by mutation in the OTX2 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Pituitary Hormone Deficiency, Combined, 1; Cphd1

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pica
  • Growth delay
  • Strabismus
  • Muscular hypotonia
  • Depressed nasal bridge
  • Nevus
And another 66 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Pituitary Hormone Deficiency, Combined, 1; Cphd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PROP1 (CPHD) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

POU1F1
Specificity
100 %
Genes
17 %
Combined Pituitary Hormone Deficiency Evaluation.

By Athena Diagnostics Inc in United States.

POU1F1, PROP1
Specificity
100 %
Genes
34 %
POU1F1-Related Combined Pituitary Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

POU1F1
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, THRB, NKX2-1, KDM6A, SLC16A2, KMT2D, POU1F1, PROP1, TSHR , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
34 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, THRB, NKX2-1, KDM6A, SLC16A2, KMT2D, POU1F1, PROP1, TSHR , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
34 %
POU1F1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

POU1F1
Specificity
100 %
Genes
17 %
POU1F1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

POU1F1
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined, 1 (sequence analysis of POU1F1 gene).

By CGC Genetics in Portugal.

POU1F1
Specificity
100 %
Genes
17 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

LHX3, LHX4, SOX3, POU1F1, PROP1, HESX1, OTX2
Specificity
72 %
Genes
84 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
36 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
36 %
Genes
100 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

LHX3, LHX4, SOX3, POU1F1, PROP1, HESX1, OTX2
Specificity
72 %
Genes
84 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TRHR, TRH, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
50 %
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LHX3, LHX4, GLI2, SOX3, POU1F1, PROP1, HESX1, SOX2, OTX2
Specificity
67 %
Genes
100 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

GHSR, IGF1R, IGF1, LHX3, LHX4, SOX3, GHR, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
36 %
Genes
84 %
Short stature with endocrinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GHSR, IGF1R, IGF1, LHX3, LHX4, SOX3, GHR, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
36 %
Genes
84 %
Short stature with endocrinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GHSR, IGF1R, IGF1, LHX3, LHX4, SOX3, GHR, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
36 %
Genes
84 %
Pituitary hormone deficiency, combined type 1.

By Centogene AG - the Rare Disease Company in Germany.

POU1F1
Specificity
100 %
Genes
17 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
67 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
67 %
Single gene testing POU1F1.

By CeGaT GmbH in Germany.

POU1F1
Specificity
100 %
Genes
17 %
Combined Pituitary Hormone Deficiency.

By Asper Biogene Asper Biogene LLC in Estonia.

LHX3, LHX4, GH1, POU1F1, GHRHR, PROP1, HESX1, OTX2
Specificity
63 %
Genes
84 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

TRHR, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, HESX1, SECISBP2 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
50 %
Pituary hormone deficiency.

By Praxis fuer Humangenetik Wien in Austria.

POU1F1
Specificity
100 %
Genes
17 %
Pituary hormone deficiency.

By MedGene in Slovakia.

POU1F1
Specificity
100 %
Genes
17 %
Combined pituitary hormone deficiency (CPHD): POU1F1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

POU1F1
Specificity
100 %
Genes
17 %
CONGENITAL HYPOTHYROIDISM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAX9, TRHR, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
34 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3 , (...)

View the complete list with 25 more genes
Specificity
9 %
Genes
67 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
17 %
POU1F1.

By Fulgent Genetics Fulgent Genetics in United States.

POU1F1
Specificity
100 %
Genes
17 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
8 %
Genes
100 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, HESX1, SECISBP2 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
2 %
Genes
100 %
Pituitary hormone deficiency, combined, 1.

By Bioarray in Spain.

POU1F1
Specificity
100 %
Genes
17 %
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GHSR, LHX3, LHX4, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
50 %
Genes
84 %
Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LHX3, LHX4, POU1F1, PROP1, HESX1, OTX2
Specificity
84 %
Genes
84 %
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GHSR, LHX4, GHR, GH1, POU1F1, GHRHR, PROP1, HESX1
Specificity
50 %
Genes
67 %
POU1F1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

POU1F1
Specificity
100 %
Genes
17 %
COMBINED PITUITARY HORMONE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

LHX3, LHX4, POU1F1, PROP1, HESX1, CYP11B1, OTX2
Specificity
72 %
Genes
84 %
Combined Pituitary Hormone Deficiency Type 1 , Sequencing POU1F1 Gene.

By Reference Laboratory Genetics in Spain.

POU1F1
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

TG, TPO, SLC5A5, FOXE1, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, SECISBP2, SLC26A4
Specificity
11 %
Genes
34 %
Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

LHX3, LHX4, POU1F1, PROP1, HESX1, OTX2
Specificity
84 %
Genes
84 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
17 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
17 %
POU1F1 (CPHD) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PROP1
Specificity
100 %
Genes
17 %
PROP1-Related Combined Pituitary Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

PROP1
Specificity
100 %
Genes
17 %
PROP1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PROP1
Specificity
100 %
Genes
17 %
PROP1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PROP1
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency 2, combined (sequence analysis of PROP1 gene).

By CGC Genetics in Portugal.

PROP1
Specificity
100 %
Genes
17 %
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
60 %
Genes
50 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, FEZF1, NSMF, SEMA3A, IL17RD, LHX3, LHX4, SOX3, SEMA3E, SOX10 , (...)

View the complete list with 17 more genes
Specificity
9 %
Genes
50 %
Combined Pituitary Hormone Deficiency-2 (CPHD2) via PROP1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PROP1
Specificity
100 %
Genes
17 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, NR3C1, KISS1 , (...)

View the complete list with 83 more genes
Specificity
3 %
Genes
50 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
50 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
2 %
Genes
50 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
2 %
Genes
50 %
PROP1-Related Combined Pituitary Hormone Deficiency.

By Bioscientia GmbH Center for Human Genetics in Germany.

PROP1
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined type 2.

By Centogene AG - the Rare Disease Company in Germany.

PROP1
Specificity
100 %
Genes
17 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
67 %
Single gene testing PROP1.

By CeGaT GmbH in Germany.

PROP1
Specificity
100 %
Genes
17 %
Pituary hormone deficiency.

By Praxis fuer Humangenetik Wien in Austria.

PROP1
Specificity
100 %
Genes
17 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
17 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
17 %
Pituary hormone deficiency.

By MedGene in Slovakia.

PROP1
Specificity
100 %
Genes
17 %
Combined pituitary hormone deficiency (CPHD): PROP1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PROP1
Specificity
100 %
Genes
17 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
17 %
Septo-optic Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
60 %
Genes
50 %
PROP1.

By Fulgent Genetics Fulgent Genetics in United States.

PROP1
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined, 2.

By Bioarray in Spain.

PROP1
Specificity
100 %
Genes
17 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
17 %
PROP1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PROP1
Specificity
100 %
Genes
17 %
Panhypopituitarism , Sequencing PROP1 Gene.

By Reference Laboratory Genetics in Spain.

PROP1
Specificity
100 %
Genes
17 %
planTrue Extended.

By True Health Diagnostics in United States.

HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
17 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
17 %
PROP1-Related Combined Pituitary Hormone Deficiency: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PROP1
Specificity
100 %
Genes
17 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
Septooptic Dysplasia.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

HESX1
Specificity
100 %
Genes
17 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
50 %
Septo-Optic Dysplasia and Schizencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SIX3, EMX2, COL4A1, HESX1, SOX2, SHH
Specificity
17 %
Genes
17 %
HESX1 Gene Sequencing.

By GeneDx in United States.

HESX1
Specificity
100 %
Genes
17 %
HESX1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

HESX1
Specificity
100 %
Genes
17 %
HESX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HESX1
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene).

By CGC Genetics in Portugal.

HESX1
Specificity
100 %
Genes
17 %
Septooptic dysplasia (sequence analysis of HESX1 gene).

By CGC Genetics in Portugal.

HESX1
Specificity
100 %
Genes
17 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, SEMA3A, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
17 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, SEMA3A, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
17 %
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HESX1
Specificity
100 %
Genes
17 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)

View the complete list with 147 more genes
Specificity
2 %
Genes
34 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
34 %
Septooptic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

HESX1
Specificity
100 %
Genes
17 %
HESX1.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

HESX1
Specificity
100 %
Genes
17 %
Septo-optical dysplasia Panel.

By CeGaT GmbH in Germany.

TAX1BP3, SOX3, PROKR2, FGFR2, HESX1, SOX2, OTX2
Specificity
29 %
Genes
34 %
Single gene testing HESX1.

By CeGaT GmbH in Germany.

HESX1
Specificity
100 %
Genes
17 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
34 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
34 %
Septo-optic dysplasia.

By Molecular Vision Laboratory in United States.

HESX1, SOX2, OTX2, PAX6
Specificity
50 %
Genes
34 %
Pituary hormone deficiency.

By Praxis fuer Humangenetik Wien in Austria.

HESX1
Specificity
100 %
Genes
17 %
Septooptic Dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

HESX1
Specificity
100 %
Genes
17 %
Pituary hormone deficiency.

By MedGene in Slovakia.

HESX1
Specificity
100 %
Genes
17 %
Septooptic Dysplasia.

By MedGene in Slovakia.

HESX1
Specificity
100 %
Genes
17 %
Morsier syndrome: HESX1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HESX1
Specificity
100 %
Genes
17 %
Combined pituitary hormone deficiency (CPHD): HESX1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HESX1
Specificity
100 %
Genes
17 %
Septooptic dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
45 %
Genes
67 %
HESX1.

By Fulgent Genetics Fulgent Genetics in United States.

HESX1
Specificity
100 %
Genes
17 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...)

View the complete list with 18 more genes
Specificity
6 %
Genes
34 %
Septo-Optic Dysplasia Panel.

By Blueprint Genetics in Finland.

HESX1, SOX2, OTX2, PAX6
Specificity
50 %
Genes
34 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
34 %
Septo-optic dysplasia.

By Bioarray in Spain.

HESX1
Specificity
100 %
Genes
17 %
HESX1 Gene Sequencing and Deletion/Duplication analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HESX1
Specificity
100 %
Genes
17 %
SEPTO-OPTIC DYSPLASIA (MORSIER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

HESX1
Specificity
100 %
Genes
17 %
Septo-Optic Dysplasia , Sequencing HESX1 Gene.

By Reference Laboratory Genetics in Spain.

HESX1
Specificity
100 %
Genes
17 %
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
45 %
Genes
67 %
LHX4-Related Combined Pituitary Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

LHX4
Specificity
100 %
Genes
17 %
LHX4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

LHX4
Specificity
100 %
Genes
17 %
LHX4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LHX4
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined, 4 (sequence analysis of LHX4 gene).

By CGC Genetics in Portugal.

LHX4
Specificity
100 %
Genes
17 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
17 %
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via LHX4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LHX4
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined type IV.

By Centogene AG - the Rare Disease Company in Germany.

LHX4
Specificity
100 %
Genes
17 %
Pituary hormone deficiency, combined, 4.

By Praxis fuer Humangenetik Wien in Austria.

LHX4
Specificity
100 %
Genes
17 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
17 %
Pituary hormone deficiency, combined, 4.

By MedGene in Slovakia.

LHX4
Specificity
100 %
Genes
17 %
Combined pituitary hormone deficiency (CPHD): LHX4 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LHX4
Specificity
100 %
Genes
17 %
LHX4.

By Fulgent Genetics Fulgent Genetics in United States.

LHX4
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined, 4.

By Bioarray in Spain.

LHX4
Specificity
100 %
Genes
17 %
LHX4 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LHX4
Specificity
100 %
Genes
17 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
17 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
17 %
Combined Pituitary Hormone Deficiency Type 4 , Sequencing LHX4 Gene.

By Reference Laboratory Genetics in Spain.

LHX4
Specificity
100 %
Genes
17 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
17 %
Holoprosencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DISP1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
8 %
Genes
17 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
17 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
17 %
Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion/Duplication, 11 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

TDGF1, DISP1, GLI2, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
10 %
Genes
17 %
GLI2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GLI2
Specificity
100 %
Genes
17 %
Holoprosencephaly 9 (sequence analysis of GLI2 gene).

By CGC Genetics in Portugal.

GLI2
Specificity
100 %
Genes
17 %
Holoprosencephaly (NGS panel for 9 genes).

By CGC Genetics in Portugal.

GLI3, GLI2, CDON, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
12 %
Genes
17 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSTYK, CHD1L, HOXA4, HOXB6, CDC5L, GREB1L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, TBX18, FGF20, ITGA8, PBX1, ROBO2, AGT, SOX17, HPSE2, LIFR , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
17 %
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TDGF1, DISP1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
8 %
Genes
17 %
Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene.

By PreventionGenetics PreventionGenetics in United States.

GLI2
Specificity
100 %
Genes
17 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
17 %
Holoprosencephaly.

By MGZ Medical Genetics Center in Germany.

TDGF1, DISP1, GLI2, CDON, FOXH1, NODAL, FGF8, PTCH1
Specificity
13 %
Genes
17 %
Holoprosencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

GLI3, GLI2, CDON, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
12 %
Genes
17 %
Holoprosencephaly-9.

By Centogene AG - the Rare Disease Company in Germany.

GLI2
Specificity
100 %
Genes
17 %
Holoprosencephaly Panel.

By CeGaT GmbH in Germany.

GLI2, CDON, ZIC2, TGIF1, SIX3, PTCH1, SHH
Specificity
15 %
Genes
17 %
Holoprosencephaly Panel.

By CeGaT GmbH in Germany.

GLI2, CDON, ZIC2, TGIF1, SIX3, PTCH1, SHH
Specificity
15 %
Genes
17 %
Single gene testing GLI2.

By CeGaT GmbH in Germany.

GLI2
Specificity
100 %
Genes
17 %
GLI2-Related Holoprosencephaly.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

GLI2
Specificity
100 %
Genes
17 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
2 %
Genes
34 %
Invitae Holoprosencephaly Panel.

By Invitae in United States.

GLI2, ZIC2, TGIF1, SIX3, SHH
Specificity
20 %
Genes
17 %
HOLOPROSENCEPHALY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TDGF1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1
Specificity
9 %
Genes
17 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
17 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
17 %
Holoproscencephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GLI2, CDON, ZIC2, TGIF1, SIX3, PTCH1, SHH
Specificity
15 %
Genes
17 %
GLI2.

By Fulgent Genetics Fulgent Genetics in United States.

GLI2
Specificity
100 %
Genes
17 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
17 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

GLI3, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
9 %
Genes
17 %
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel.

By Blueprint Genetics in Finland.

WDR34, WDR60, NEK1, DYNC2H1, CSPP1, IFT172, TCTN3, IFT122, EVC2, EVC, IFT80, TTC21B, WDR19, IFT140, GLI2, WDR35
Specificity
7 %
Genes
17 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
17 %
Holoprosencephaly type 9.

By Bioarray in Spain.

GLI2
Specificity
100 %
Genes
17 %
Holoprosencephaly , Sequencing GLI2 Gene.

By Reference Laboratory Genetics in Spain.

GLI2
Specificity
100 %
Genes
17 %
Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

GLI2, CDON, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1
Specificity
13 %
Genes
17 %
Ellis-Van Creveld Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

DYNC2H1, EVC2, EVC, IFT80, GLI2, WDR35
Specificity
17 %
Genes
17 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
17 %
Holoprosencephaly: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TDGF1, DISP1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
8 %
Genes
17 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
6 %
Genes
17 %
OTX2 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OTX2
Specificity
100 %
Genes
17 %
OTX2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OTX2
Specificity
100 %
Genes
17 %
OTX2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OTX2
Specificity
100 %
Genes
17 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
17 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
17 %
Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

OTX2
Specificity
100 %
Genes
17 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
17 %
Microphthalmia, syndromic 5.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

OTX2
Specificity
100 %
Genes
17 %
OTX2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

OTX2
Specificity
100 %
Genes
17 %
Pituitary hormone deficiency, combined 6 (sequence analysis of OTX2 gene).

By CGC Genetics in Portugal.

OTX2
Specificity
100 %
Genes
17 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
5 %
Genes
17 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
17 %
Microphthalmia (sequence analysais of OTX2 gene).

By CGC Genetics in Portugal.

OTX2
Specificity
100 %
Genes
17 %
Syndromic Microphthalmia via the OTX2 Gene.

By PreventionGenetics PreventionGenetics in United States.

OTX2
Specificity
100 %
Genes
17 %
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRRX1, OTX2
Specificity
50 %
Genes
17 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BMP7, SMOC1, ALDH1A3, TENM3, BMP4, CRYBA4, VSX2, FOXE3, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX
Specificity
6 %
Genes
17 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
17 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
17 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
17 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
17 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
17 %
OTX2.

By MGZ Medical Genetics Center in Germany.

OTX2
Specificity
100 %
Genes
17 %
PAX6-Related Anophthalmia.

By Bioscientia GmbH Center for Human Genetics in Germany.

VSX2, SOX2, SIX6, OTX2, PAX6
Specificity
20 %
Genes
17 %
Microphthalmia syndromic type 4.

By Centogene AG - the Rare Disease Company in Germany.

OTX2
Specificity
100 %
Genes
17 %
Microphthalmia panel.

By Centogene AG - the Rare Disease Company in Germany.

TENM1, ALDH1A3, TENM3, BMP4, VSX2, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX
Specificity
8 %
Genes
17 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
17 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

NMNAT1, RDH5, LCA5, IQCB1, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
5 %
Genes
17 %
Single gene testing OTX2.

By CeGaT GmbH in Germany.

OTX2
Specificity
100 %
Genes
17 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
17 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
17 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
17 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
17 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

PXDN, ALDH1A3, PRSS56, BMP4, VSX2, FOXE3, GDF6, PAX2, SOX2, BCOR, STRA6, SHH, OTX2, MFRP, RAX
Specificity
7 %
Genes
17 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
6 %
Genes
17 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
17 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
17 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
6 %
Genes
17 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
17 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
17 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
17 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
17 %
OTX2.

By Fulgent Genetics Fulgent Genetics in United States.

OTX2
Specificity
100 %
Genes
17 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
17 %
OTX2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

OTX2
Specificity
100 %
Genes
17 %
ANOPHTHALMIA/ MICROPHTALMIA.

By Laboratorio de Genetica Clinica SL in Spain.

VSX2, SOX2, SIX6, SHH, OTX2, RAX
Specificity
17 %
Genes
17 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
17 %
Septo-Optic Dysplasia , Sequencing OTX2 Gene.

By Reference Laboratory Genetics in Spain.

OTX2
Specificity
100 %
Genes
17 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

GDF3, BMP4, VSX2, VAX1, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, ABCB6, RAX
Specificity
8 %
Genes
17 %

Alternate names

Pituitary Hormone Deficiency, Combined, 1; Cphd1 Is also known as ;familial congenital hypopituitarism; multiple pituitary hormone deficiencies, genetic forms.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

NEPHROTIC SYNDROME, TYPE 6; NPHS6 SPINOCEREBELLAR ATAXIA 40; SCA40