1. Genes and Genomic Entities
  2. MBOAT7

MBOAT7

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber MBOAT7 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Amber MBOAT7 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability Accompanied by Epilepsy and Autistic Features
Green MBOAT7 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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
    Green MBOAT7 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 57, 617188