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  2. Muscular dystrophy and myopathy_Paediatric
  3. BET1
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Muscular dystrophy and myopathy_Paediatric

Gene: BET1

Amber List (moderate evidence)
BET1 (Bet1 golgi vesicular membrane trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000105829
EnsemblGeneIds (GRCh37): ENSG00000105829
OMIM: 605456, Gene2Phenotype
BET1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from 2 unrelated families reported.
Sources: Literature
Created: 24 Jan 2022, 3:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, with rapid progression, MIM# 254100

Publications

Created: 24 Jan 2022, 3:03 a.m.

Panel version: 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, with rapid progression, MIM# 254100
OMIM
605456
Clinvar variants
Variants in BET1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy, congenital, with rapid progression, MIM# 254100

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bet1 has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bet1 has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BET1 was added gene: BET1 was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BET1 were set to 34779586 Phenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy Review for gene: BET1 was set to AMBER