This Panel is marked as Internal
Dystonia - childhood onset
Gene: WDR73
WDR73 (WD repeat domain 73)
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Galloway-Mowat syndrome 1, 251300
- OMIM
- 616144
- Clinvar variants
- Variants in WDR73
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Proteinuric renal disease
- Adult onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: WDR73 was added gene: WDR73 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome