Arthrogryposis
Gene: CHRNB1
Comment on mode of pathogenicity:
Gain-of-function variants in CHRNA1, CHRNB1, CHRND, or CHRNE that alter the kinetic properties of the AChR result in the autosomal dominant slow channel CMS (SCCMS). Loss-of-function variants in the AChR subunit genes (CHRNA1, CHRNB1, CHRND, CHRNE) are associated with autosomal recessive CMS
Created: 4 Jan 2017, 11:21 a.m.
Offered as diagnostic test by Oxford CMS service. CMS can be associated with arthrogryposisCreated: 4 Jan 2017, 11:20 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 616314; Myasthenic syndrome, congenital, 2A, slow-channel 616313
Publications
Mode of pathogenicity
Other
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 CHRNB1 were set to 20301347
Mode of pathogenicity for CHRNB1 was changed to Other - please provide details in the comments
Mode of inheritance for CHRNB1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
CHRNB1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRNB1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRNB1 was added to Arthrogryposispanel. Source: UKGTN CHRNB1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal
CHRNB1 was created by ellenmcdonagh
CHRNB1 was added to Arthrogryposispanel. Sources: Expert list