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Mendeliome

Gene: CHRNB1

Green List (high evidence)

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)

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity.

Reports of both mono allelic and bi-allelic disease. Perinatal onset.
Created: 11 Dec 2021, 6:08 a.m. | Last Modified: 11 Dec 2021, 6:08 a.m.
Panel Version: 0.10195

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

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

History Filter Activity

11 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrnb1 has been classified as Green List (High Evidence).

11 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

11 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHRNB1 were set to

11 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNB1 was added gene: CHRNB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHRNB1 was set to Unknown