Ataxia - paediatric
Gene: WDR73
WDR73 (WD repeat domain 73)
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Galloway-Mowat syndrome is a neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome.
Multiple families reported.Created: 19 Jan 2022, 7:51 a.m. | Last Modified: 19 Jan 2022, 7:51 a.m.
Panel Version: 0.10646
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1 MIM#251300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
- Galloway-Mowat Syndrome 1, 251300
- OMIM
- 616144
- Clinvar variants
- Variants in WDR73
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WDR73 was added gene: WDR73 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway-Mowat Syndrome 1, 251300