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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. CHRNA1
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: CHRNA1

Green List (high evidence)
CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 13 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

13 patients from nine unrelated families with acetylcholine receptor deficiency harbouring the CHRNA1 variant NM_001039523.3:c.257G>A (p.Arg86His) in homozygosity or compound heterozygosity with a predominant pattern of distal upper limb weakness in adulthood, similar to distal myopathy.
Sources: Literature
Created: 1 Aug 2024, 1:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Aug 2024, 1:30 a.m.

Panel version: 1.29

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with myasthenic syndromes, at least 2 families reported with more severe presentation of multiple pterygium syndrome. These conditions represent a spectrum of severity.
Created: 15 Nov 2021, 6:19 a.m. | Last Modified: 15 Nov 2021, 6:19 a.m.
Panel Version: 0.9737

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930

Publications

Created: 15 Nov 2021, 6:19 a.m.
Last Modified: 15 Nov 2021, 6:19 a.m.
Panel version: Imported from Mendeliome panel version 0.9737

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156
OMIM
100690
Clinvar variants
Variants in CHRNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chrna1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chrna1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHRNA1 was added gene: CHRNA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 36634413 Phenotypes for gene: CHRNA1 were set to myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Review for gene: CHRNA1 was set to GREEN gene: CHRNA1 was marked as current diagnostic