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  3. CHRNB1
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Congenital Myasthenia

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)

Reports of both mono allelic and bi-allelic disease.
Created: 23 Oct 2020, 7:11 a.m. | Last Modified: 23 Oct 2020, 7:11 a.m.
Panel Version: 0.27

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 23 Oct 2020, 7:11 a.m.
Last Modified: 23 Oct 2020, 7:11 a.m.
Panel version: 0.27

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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

23 Oct 2020, 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).

23 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHRNB1 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHRNB1 was added gene: CHRNB1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314