Early onset or syndromic epilepsy
Gene: MBOAT7
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 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
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
Source Wessex and West Midlands GLH was added to MBOAT7.
Source NHS GMS was added to MBOAT7.
Sarah Leigh: Gene originally listed on the
Victorian Clinical Genetics Services was added to MBOAT7. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
MBOAT7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
MBOAT7 was created by Sarah Leigh