Arthrogryposis
Gene: CHRNB1

CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000170175
EnsemblGeneIds (GRCh37): ENSG00000170175
OMIM: 100710, Gene2Phenotype
CHRNB1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reports of both mono allelic and bi-allelic disease. Perinatal onset, contractures are a feature.
Created: 11 Dec 2021, 6:10 a.m. | Last Modified: 11 Dec 2021, 6:10 a.m.

Panel Version: 0.316

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

Publications

Created: 11 Dec 2021, 6:10 a.m.
Last Modified: 11 Dec 2021, 6:10 a.m.
Panel version: 0.316

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

OMIM

100710

Clinvar variants

Variants in CHRNB1

Penetrance

None

Publications

Panels with this gene