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  2. Muscular dystrophy and myopathy_Paediatric
  3. CHRNA1
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Muscular dystrophy and myopathy_Paediatric

Gene: CHRNA1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Congenital myopathy reported in at least 2 cases. One biallelic (loss of function) and one monoallelic (gain of function).
Sources: Literature
Created: 1 Aug 2024, 1:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy MONDO:0019952

Publications

Created: 1 Aug 2024, 1:24 a.m.

Panel version: 1.46

History Filter Activity

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chrna1 has been classified as Amber List (Moderate Evidence).

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chrna1 has been classified as Amber List (Moderate Evidence).

1 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chrna1 has been classified as Red List (Low 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 Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 36634413; 38982518 Phenotypes for gene: CHRNA1 were set to Congenital myopathy MONDO:0019952 Review for gene: CHRNA1 was set to AMBER