WDR19 gene related symptoms and diseases

All the information presented here about the WDR19 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to WDR19 gene

Symptoms // Phenotype % Cases
Nephronophthisis Common - Between 50% and 80% cases
Narrow chest Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with WDR19 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Limb undergrowth
  • Abnormality of the skeletal system
  • Nephropathy
  • Frontal bossing
  • Renal hypoplasia
  • Short ribs
  • Elevated serum creatinine
  • Full cheeks

And 239 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to WDR19 gene

Here you will find a list of rare diseases related to the WDR19. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JEUNE SYNDROME


Alternate names

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn, jatd, jeune asphyxiating thoracic dystrophy

Description

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

Most common symptoms of JEUNE SYNDROME

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


More info about JEUNE SYNDROME

SOURCES: ORPHANET

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Alternate names

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5, asphyxiating thoracic dystrophy 5

Description

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Most common symptoms of SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

SOURCES: OMIM

JUVENILE NEPHRONOPHTHISIS



More info about JUVENILE NEPHRONOPHTHISIS

SOURCES: ORPHANET

NEPHRONOPHTHISIS 13; NPHP13


Most common symptoms of NEPHRONOPHTHISIS 13; NPHP13

  • Growth delay
  • Abnormality of the skeletal system
  • Renal insufficiency
  • Dilatation
  • Polydactyly


More info about NEPHRONOPHTHISIS 13; NPHP13

SOURCES: OMIM

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Alternate names

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type, srps iv, short rib-polydactyly syndrome type 4, short rib-polydactyly syndrome, type iv, beemer-langer syndrome, srps4

Description

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

Most common symptoms of SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

SOURCES: ORPHANET MESH OMIM

SENIOR-LOKEN SYNDROME


Alternate names

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome, juvenile nephronophthisis with leber amaurosis, loken-senior syndrome, renal dysplasia-retinal aplasia syndrome, nephronophthisis with retinal dystrophy, slsn, renal dysplasia and retinal aplasia, senior-loken syndrome

Description

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

Most common symptoms of SENIOR-LOKEN SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


More info about SENIOR-LOKEN SYNDROME

SOURCES: ORPHANET OMIM

CRANIOECTODERMAL DYSPLASIA


Alternate names

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i, sensenbrenner syndrome, ced

Description

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Most common symptoms of CRANIOECTODERMAL DYSPLASIA

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


More info about CRANIOECTODERMAL DYSPLASIA

SOURCES: OMIM ORPHANET

CRANIOECTODERMAL DYSPLASIA 4; CED4


Description

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Most common symptoms of CRANIOECTODERMAL DYSPLASIA 4; CED4

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

SOURCES: OMIM

SENIOR-LOKEN SYNDROME 8; SLSN8


Most common symptoms of SENIOR-LOKEN SYNDROME 8; SLSN8

  • Cognitive impairment
  • Dilatation
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor


More info about SENIOR-LOKEN SYNDROME 8; SLSN8

SOURCES: OMIM


Potential gene panels for WDR19 gene

Retinitis Pigmentosa Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel

Craniosynostosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43

More info about this panel

Nephronophthisis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6

More info about this panel

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

Nephronophthisis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6

More info about this panel

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

WDR19. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the WDR19 gene.

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Asphyxiating thoracic dystrophy 5 (sequence analysis of WDR19 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the WDR19 gene.

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Nephronophthisis (NGS panel for 19 genes) Panel

Portugal.

By CGC Genetics Nephronophthisis (NGS panel for 19 genes) that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6

More info about this panel

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel

Ellis Van Creveld syndrome (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Ellis Van Creveld syndrome (NGS panel for 12 genes) that also includes the following genes: WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1 IFT172

More info about this panel

Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B CSPP1 CEP120 WDR34 IFT140 WDR35

More info about this panel

Cranioectodermal dysplasia (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Cranioectodermal dysplasia (NGS panel for 4 genes) that also includes the following genes: IFT122 WDR19 WDR35 IFT43

More info about this panel

Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6

More info about this panel

Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: SLC26A2 SOX9 IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B WDR34 IFT140

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Skeletal dysplasia ciliopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Deletion / Duplication panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120

More info about this panel

Skeletal dysplasia ciliopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy NGS panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120

More info about this panel

Skeletal dysplasia ciliopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Comprehensive panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120

More info about this panel

Nephronophthisis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Nephronophthisis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Nephronophthisis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel

Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Senior Loken Syndrome Panel Panel

Germany.

By CeGaT GmbH Senior Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Nephronophthisis Panel Panel

Germany.

By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6

More info about this panel

Senior Loken Syndrome Panel Panel

Germany.

By CeGaT GmbH Senior Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164

More info about this panel

Senior-Loken Syndrome Panel Panel

Germany.

By CeGaT GmbH Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164

More info about this panel

Short-rib dysplasia Panel Panel

Germany.

By CeGaT GmbH Short-rib dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

Skeletal Ciliopathies Panel

Estonia.

By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Senior-Loken Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Senior-Loken Syndrome that also includes the following genes: SDCCAG8 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 NPHP1 NPHP3

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Invitae Senior-Loken Syndrome Panel Panel

United States.

By Invitae Invitae Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 INVS WDR19 NPHP4 IQCB1 CEP290 NPHP1 NPHP3

More info about this panel

Invitae Nephronophthisis Panel Panel

United States.

By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1

More info about this panel

Invitae Ciliopathies Panel Panel

United States.

By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237

More info about this panel

Invitae Skeletal Ciliopathies Panel Panel

United States.

By Invitae Invitae Skeletal Ciliopathies Panel that also includes the following genes: IFT122 WDR19 EVC2 KIAA0586 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34

More info about this panel

Craniosysostosis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43

More info about this panel

Jeune asphyxiating thoracic dystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Jeune asphyxiating thoracic dystrophy that also includes the following genes: WDR19 TTC21B IFT80 DYNC2H1

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel

WDR19 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the WDR19 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Nephronophthisis Panel Panel

Finland.

By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6

More info about this panel

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel Panel

Finland.

By Blueprint Genetics Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 WDR34 IFT140 WDR35

More info about this panel

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

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Micromelic Dysplasia Panel Panel

Finland.

By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2

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Congenital Hepatic Fibrosis Panel Panel

Finland.

By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7

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Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

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Jeune syndrome (type 5) Panel

Spain.

By Bioarray

This panel specifically test the WDR19 gene.

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JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) Panel

Spain.

By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) that also includes the following genes: WDR19 TTC21B IFT140 IFT80 DYNC2H1

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JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34 IFT140

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CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

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NEPHRONOPHTHISIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL NEPHRONOPHTHISIS NGS PANEL that also includes the following genes: SDCCAG8 ARL6 NEK8 ZNF423 INVS CEP83 WDR19 NPHP4 TTC21B ANKS6

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SENIOR-LOKEN SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SENIOR-LOKEN SYNDROME NGS PANEL that also includes the following genes: SDCCAG8 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164 NPHP1 NPHP3

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Newborn Thoracic Dystrophy Type 5, Sequencing WDR19 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the WDR19 gene.

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Asphyxiating Thoracic Dystrophy , Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes Panel

Spain.

By Reference Laboratory Genetics Asphyxiating Thoracic Dystrophy , Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes that also includes the following genes: WDR19 TTC21B IFT80 DYNC2H1

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Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SDCCAG8 TRAF3IP1 WDR19 NPHP4 IQCB1 CEP290 NPHP1

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