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 arthrogryposis
Created: 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
Multiple pterygium syndrome, lethal type 253290 ; Myasthenic syndrome, congenital, 1A, slow-channel 601462; Myasthenic syndrome, congenital, 1B, fast-channel 608930
Mode of pathogenicity
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.
This gene has been classified as Green List (High Evidence).
Publications for CHRNA1 were set to 20301347
Mode of pathogenicity for CHRNA1 was changed to Other - please provide details in the comments
Mode of inheritance for CHRNA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
CHRNA1 was created by ellenmcdonagh
CHRNA1 was added to Arthrogryposispanel. Sources: Expert list