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Prepair 1000+

Gene: WDR19

Green List (high evidence)

WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 16 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Syndromic spectrum of ciliopathy disorders; ciliopathy MONDO:0005308 (ClinGen).

PMID: 38163131: Wide range of severity, including inter- and intra- familial variability.
Created: 20 Jan 2025, 10:38 p.m. | Last Modified: 20 Jan 2025, 10:38 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 13, MIM# 614377
  • Senior-Loken syndrome 8, MIM# 616307
  • Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
  • Cranioectodermal dysplasia 4, MIM# 614378
OMIM
608151
Clinvar variants
Variants in WDR19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr19 has been classified as Green List (High Evidence).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR19 were changed from Senior-Loken syndrome 8, 616307 (3) to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDR19 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR19 was added gene: WDR19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)