Early onset or syndromic epilepsy
Gene: OTUD6B
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
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
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
Source Wessex and West Midlands GLH was added to OTUD6B.
Source NHS GMS was added to OTUD6B.
Sarah Leigh: Gene originally listed on the
This gene has been classified as Green List (High Evidence).
OTUD6B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
OTUD6B was created by Sarah Leigh