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Genetic epilepsy syndromes

Gene: MBOAT7

Green List (high evidence)

MBOAT7 (membrane bound O-acyltransferase domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000125505
EnsemblGeneIds (GRCh37): ENSG00000125505
OMIM: 606048, Gene2Phenotype
MBOAT7 is in 5 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation, autosomal recessive 57 617188
OMIM
606048
Clinvar variants
Variants in MBOAT7
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MBOAT7.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MBOAT7.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MBOAT7. Panel: Genetic Epilepsy Syndromes

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MBOAT7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MBOAT7 was created by Sarah Leigh