1. Genes and Genomic Entities
  2. BET1

BET1

Bet1 golgi vesicular membrane trafficking protein
OMIM: 605456, Gene2Phenotype

2 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

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 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Epilepsy, MONDO:0005027