Pseudohypoparathyroidism, Type Ib; Php1b

Description

Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH ). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH ) has been reported in PHP Ib (Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely show some features of AHO (Mariot et al., 2008).For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudohypoparathyroidism, Type Ib; Php1b

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Depressed nasal bridge
  • Nevus
  • Brachydactyly
  • Short neck
  • Renal insufficiency
And another 34 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Pseudohypoparathyroidism, Type Ib; Php1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GNAS-AS1.

By Fulgent Genetics Fulgent Genetics in United States.

GNAS-AS1
Specificity
100 %
Genes
34 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
12 %
Genes
67 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
12 %
Genes
67 %
Pseudohypoparathyroidism type 1B (sequence analysis of STX16 gene).

By CGC Genetics in Portugal.

STX16
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1B (deletion/duplication analysis on STX16 gene).

By CGC Genetics in Portugal.

STX16
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism, type IB.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GNAS, STX16
Specificity
100 %
Genes
67 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB, AIRE, CASR, GATA3, PTH1R, SOX3, GNAS, GNA11, AP2S1, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
14 %
Genes
67 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
67 %
Single gene testing STX16.

By CeGaT GmbH in Germany.

STX16
Specificity
100 %
Genes
34 %
STX16.

By Fulgent Genetics Fulgent Genetics in United States.

STX16
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Type 1B.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Type 1A.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

GNAS
Specificity
100 %
Genes
34 %
Albright Hereditary Osteodystrophy (GNAS).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

GNAS
Specificity
100 %
Genes
34 %
Platelet Disorders.

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

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
GNAS Related Disorders.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

GNAS
Specificity
100 %
Genes
34 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
GNAS mutation analysis.

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

GNAS
Specificity
100 %
Genes
34 %
GNAS. Complete sequencing.

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

GNAS
Specificity
100 %
Genes
34 %
GNAS. Complete sequencing.

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

GNAS
Specificity
100 %
Genes
34 %
GNAS. Complete sequencing.

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

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome (deletion/duplication analysis of GNAS gene).

By CGC Genetics in Portugal.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome (somatic mutations at codon 201 of GNAS gene).

By CGC Genetics in Portugal.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ib (sequence analysis of GNAS gene).

By CGC Genetics in Portugal.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome (sequence analysis of GNAS gene).

By CGC Genetics in Portugal.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism (methylation and deletion/duplication analysis on GNAS gene).

By CGC Genetics in Portugal.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1A.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GNAS
Specificity
100 %
Genes
34 %
Osseous heteroplasia, progressive.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GNAS
Specificity
100 %
Genes
34 %
McCune Albright Syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GNAS
Specificity
100 %
Genes
34 %
Osseous heteroplasia, progressive.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GNAS
Specificity
100 %
Genes
34 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
GNAS-Related Disorders via GNAS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GNAS
Specificity
100 %
Genes
34 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
34 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
34 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
34 %
Pituitary adenoma, growth hormone secreting.

By Centogene AG - the Rare Disease Company in Germany.

GNAS
Specificity
100 %
Genes
34 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
34 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
34 %
Osseous heteroplasia, progressive.

By Centogene AG - the Rare Disease Company in Germany.

GNAS
Specificity
100 %
Genes
34 %
Pseudopseudohypoparathyroidism.

By Centogene AG - the Rare Disease Company in Germany.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1A.

By Centogene AG - the Rare Disease Company in Germany.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1B.

By Centogene AG - the Rare Disease Company in Germany.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1C.

By Centogene AG - the Rare Disease Company in Germany.

GNAS
Specificity
100 %
Genes
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
Single gene testing GNAS.

By CeGaT GmbH in Germany.

GNAS
Specificity
100 %
Genes
34 %
Bardet Biedl Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

TMEM67, ARL6, MKKS, CEP290, TTC8, TRIM32, CCDC28B, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, PHF6, LZTFL1, WDPCP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Pseudohypoparathyroidism, GNAS gene, sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

GNAS
Specificity
100 %
Genes
34 %
ACTH-independent macronodular adrenal hyperplasia.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
Osseous heteroplasia, progressive.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ia.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ib.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
Pseudopseudohypoparathyroidism.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ic.

By Praxis fuer Humangenetik Wien in Austria.

GNAS
Specificity
100 %
Genes
34 %
ACTH-independent macronodular adrenal hyperplasia.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
Osseous heteroplasia, progressive.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ia.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ib.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Ic.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
Pseudopseudohypoparathyroidism.

By MedGene in Slovakia.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome: GNAS gene screening.

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

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome: GNAS gene sequence analysis.

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

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome: GNAS gene deletions-duplications analysis (MLPA).

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

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism (PHP-Ia / PHP-Ic) and Pseudopseudohypoparathyroidism : GNAS sequence analysis..

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

GNAS
Specificity
100 %
Genes
34 %
CONGENITAL HYPOTHYROIDISM.

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

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
34 %
Congenital Obesity: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC, MC4R , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, ARL6, MKKS, CEP290, TTC8, TRIM32, GCK, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
34 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
34 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
34 %
GNAS.

By Fulgent Genetics Fulgent Genetics in United States.

GNAS
Specificity
100 %
Genes
34 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
Genes
34 %
Monogenic Obesity Panel.

By Blueprint Genetics in Finland.

PPARG, ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
34 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
34 %
Premature Ovarian Failure Panel.

By Blueprint Genetics in Finland.

FOXL2, STAR, WT1, POLG, GALT, CYP17A1, LMNA, LHCGR, POR, NR5A1, GNAS, CYP19A1, NOBOX, BMP15, FSHR
Specificity
7 %
Genes
34 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
34 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Pseudohypoparathyroidism type 1A.

By Bioarray in Spain.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright syndrome.

By Bioarray in Spain.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1B.

By Bioarray in Spain.

GNAS
Specificity
100 %
Genes
34 %
Pseudopseudohypoparathyroidism.

By Bioarray in Spain.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism type 1C.

By Bioarray in Spain.

GNAS
Specificity
100 %
Genes
34 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
34 %
McCune Albright Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism(PHP) panel.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

GNAS
Specificity
100 %
Genes
34 %
Genetic Test of single known genetic variant.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

BRCA1, BRCA2, TP53, RET, MEN1, TSC2, TSC1, PKD2, PKD1, GNAS
Specificity
10 %
Genes
34 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
34 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
34 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
34 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
34 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
34 %
OSSEOUS HETEROPLASIA, PROGRESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

GNAS
Specificity
100 %
Genes
34 %
ALBRIGHT'S HEREDITARY OSTEODYSTROPHY.

By Laboratorio de Genetica Clinica SL in Spain.

GNAS
Specificity
100 %
Genes
34 %
SOMATOTROPHINOMA.

By Laboratorio de Genetica Clinica SL in Spain.

GNAS
Specificity
100 %
Genes
34 %
PSEUDOHYPOPARATHYROIDISM / PSEUDOPSEUDOHYPOPARATHYROIDISM.

By Laboratorio de Genetica Clinica SL in Spain.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Type IB , Sequencing GNAS Gene.

By Reference Laboratory Genetics in Spain.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright Syndrome, Sequencing GNAS Gene.

By Reference Laboratory Genetics in Spain.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Type IC , Sequencing GNAS Gene.

By Reference Laboratory Genetics in Spain.

GNAS
Specificity
100 %
Genes
34 %
Pseudohypoparathyroidism Type IA , Sequencing GNAS Gene.

By Reference Laboratory Genetics in Spain.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright Syndrome, Sequencing Exon 8 GNAS Gene.

By Reference Laboratory Genetics in Spain.

GNAS
Specificity
100 %
Genes
34 %
McCune-Albright Syndrome, Deletions-Duplications (MLPA) GNAS Gene.

By Reference Laboratory Genetics in Spain.

GNAS
Specificity
100 %
Genes
34 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
6 %
Genes
34 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
34 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
34 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
34 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
34 %

Alternate names

Pseudohypoparathyroidism, Type Ib; Php1b Is also known as php ib;.



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