Early onset or syndromic epilepsy

Gene: OTUD6B

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)

AR intellectual developmental disorder with dysmorphic facies, seizures and distal limb anomalies - characterised by early-onset seizures. Santiago-Sim et al, 2017 - 9 patients from 5 unrelated families - all patients had early onset seizures, most were generalised tonic-clonic but some were absence, myoclonic and atonic, severity and frequency - highly variable. In 12 patients from 6 unrelated families 4 hom mutations identified. Mutations segregated with disease in these families. Pstients from 5 families had a truncating mutation associated with a more severe phenotype. Patients in family 6 had a missense mutation and a slightly less severe pheno. Some functional work done on peripheral blood cells from 1 patient with a truncating mutsation.

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
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452

Publications

• 28343629

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 6 cases.

Created: 10 Apr 2018, 12:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452

Publications

• 28343629