Early onset or syndromic epilepsy

Gene: MBOAT7

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 mental retardation 57 (MRT57) - Johnson et al, 2016 - 16 patients from 6 unrelated consang families of Middle Estern descent with mod-severe intellectual disability. 10 patients developed seizures including 6 with infantile-onset focal, or myocolnic epilepsy, 2 with onset of seizures 1.5 or 2 years of age and 2 with febrile seizures. identified 5 diff hom mutations - resulting in truncated proteins, abnormal splicing or intragenic deletions affecting critical domains. No functional studies performed. Santos-Cortez et al, 2018 - AR ID panel donein 22 consng Pakistani families - hom fs variant identifed in 4 aff sibs - no mention of epilepsy/seizures in the phenotypic information provided.

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
Mental retardation, 617188

Publications

• 27616480

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 5 variants reported in 5 unrelated cases.

Created: 10 Apr 2018, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 57 617188