MEGF8

multiple EGF like domains 8
OMIM: 604267, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green MEGF8 in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Carpenter syndrome 2 614976
    Green MEGF8 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Carpenter syndrome 2 614976
    Green MEGF8 in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARPENTER SYNDROME
    Green MEGF8 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • 614976
    • Carpenter 2 614976
    Green MEGF8 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARPENTER SYNDROME 201000
    Red MEGF8 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    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
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    Green MEGF8 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carpenter syndrome 2, 614976