Arthrogryposis
Gene: CHRND
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, 11:25 a.m.
Testing offered by Oxford CMS lab. CMS can be associated with arthrogryposisCreated: 4 Jan 2017, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322 to Multiple pterygium syndrome, lethal type, OMIM:253290
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).
Phenotypes for CHRND were set to Myasthenic syndrome, congenital, 3A, slow-channel 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323; Multiple pterygium syndrome, lethal type 253290; Myasthenic syndrome, congenital, 3B, fast-channel 616322
Mode of pathogenicity for CHRND was changed to Other - please provide details in the comments
Publications for CHRND were set to 20301347; 16916845
CHRND was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRND was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRND was added to Arthrogryposispanel. Source: UKGTN CHRND was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRND was set to BIALLELIC, autosomal or pseudoautosomal
CHRND was created by ellenmcdonagh
CHRND was added to Arthrogryposispanel. Sources: Expert list