Hereditary ataxia
Gene: WDR73EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 13 panels
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Evidence limited - homozygous variants identified in the same family as the ZNF592 report. Not clear which, if either gene causes the phenotype. Delete.Created: 24 Nov 2015, 4:57 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature
- Galloway-Mowat syndrome 1, 251300
- OMIM
- 616144
- Clinvar variants
- Variants in WDR73
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Proteinuric renal disease
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for WDR73 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)WDR73 was created by jonathan.williams
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)WDR73 was added to Hereditary ataxiapanel. Sources: Expert Review