Retinal disorders
Gene: WDR19
WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Ophthalmological ciliopathies
- Skeletal dysplasia
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Limb disorders
- Cystic kidney disease
- Retinal disorders
- Tubulointerstitial kidney disease
- Skeletal ciliopathies
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Ectodermal dysplasia without a known gene mutation
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Ectodermal dysplasia
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to WDR19. Rating Changed from Green List (high evidence) to Green List (high evidence)
23 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for WDR19 was changed to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WDR19 was created by ellenmcdonagh