Arthrogryposis
Gene: CHRNA1EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 5 panels
1 review
Alice Gardham (Genomics England)
Comment on mode of pathogenicity:
Gain-of-function variants in CHRNA1 result in the autosomal dominant slow channel CMS. Loss-of-function variants in CHRNA1 are associated with autosomal recessive CMS
Created: 4 Jan 2017, 11:17 a.m.
Offered as diagnostic test by Oxford CMS service. Cause of CMS which is sometimes associated with arthrogryposisCreated: 4 Jan 2017, 11:15 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Multiple pterygium syndrome, lethal type 253290 ; Myasthenic syndrome, congenital, 1A, slow-channel 601462; Myasthenic syndrome, congenital, 1B, fast-channel 608930
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Congenital Myasthenic Syndrome, Dominant/Recessive
- Myasthenic syndrome, slow-channel congenital, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290
- OMIM
- 100690
- Clinvar variants
- Variants in CHRNA1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for CHRNA1 were set to 20301347
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for CHRNA1 was changed to Other - please provide details in the comments
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for CHRNA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)CHRNA1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRNA1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRNA1 was added to Arthrogryposispanel. Source: UKGTN CHRNA1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)CHRNA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CHRNA1 was added to Arthrogryposispanel. Sources: Expert list