Congenital muscular dystrophy

Gene: BET1

Red List (low evidence)

BET1 (Bet1 golgi vesicular membrane trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000105829
EnsemblGeneIds (GRCh37): ENSG00000105829
OMIM: 605456, Gene2Phenotype
BET1 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophy with epilepsy

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Congenital muscular dystrophy with epilepsy
OMIM
605456
Clinvar variants
Variants in BET1
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BET1 were changed from to Congenital muscular dystrophy with epilepsy

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: BET1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BET1.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BET1 was added gene: BET1 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: BET1 was set to