Early onset or syndromic epilepsy

Gene: WDR73

I don't know

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

Green List (high evidence)

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/ins

Created: 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

• 30315938
• 20083416

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.

Green List (high evidence)

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