1. Genes and Genomic Entities
  2. MBOAT7

MBOAT7

membrane bound O-acyltransferase domain containing 7
OMIM: 606048, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber MBOAT7 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 57, OMIM:617188
  • Intellectual Disability Accompanied by Epilepsy and Autistic Features
Green MBOAT7 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual Disability Accompanied by Epilepsy and Autistic Features
    Green MBOAT7 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review 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
    Green MBOAT7 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Gene2Phenotype
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal recessive 57, 617188
    • Intellectual Disability Accompanied by Epilepsy and Autistic Features
    • Autosomal recessive non-syndromic intellectual disability