Early onset or syndromic epilepsy
Gene: WDR73
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Galloway-Mowat syndrome 1 - AR - infantile onset of microcephaly and CNS abnormalities - more variable features include seizures 7/12 variants on HGMD assoc with Galloway-Mowat - stop missense, small del/insCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1, 251300
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in at least 5 unrelated cases.Created: 4 Sep 2018, 10:49 a.m.
Seizures are part of the phenotype of this multi-system disorder.Created: 22 Aug 2018, 9:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 1, MIM#251300
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to WDR73.
Source NHS GMS was added to WDR73.
Zornitza Stark: Seizures are part of the pheno
Gene: wdr73 has been classified as Green List (High Evidence).
Gene: wdr73 has been classified as Green List (High Evidence).
Mode of inheritance for gene: WDR73 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR73 were set to 25466283; 26123727; 26070982
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300
Expert Review Amber was added to WDR73. Panel: Genetic Epilepsy Syndromes
WDR73 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
WDR73 was created by Sarah Leigh