Genes in panel

Hereditary ataxia - adult onset

Gene: WDR73

Green List (high evidence)

WDR73 (WD repeat domain 73)
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Now multiple variants and cases reported in the literature
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat Syndrome 1, 251300

Details

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: WDR73

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR73.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to WDR73.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 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 Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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, when patients are ambulant ataxia is a recognisednfeature