BET1

Bet1 golgi vesicular membrane trafficking protein
OMIM: 605456, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber BET1 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • London South GLH
    Phenotypes
    • Congenital muscular dystrophy, MONDO:0019950
    Tags
    • Q4_22_promote_green
    • Q1_23_NHS_review
    Red BET1 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
    • Expert Review Red
    • Literature
    Phenotypes
    • Epilepsy, MONDO:0005027
    Green BET1 in Congenital muscular dystrophy and congenital myopathy


    Version 0.230

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    Phenotypes
    • Congenital muscular dystrophy, MONDO:0019950