Arthrogryposis
Gene: CHRNE
50% of congenital myasthenic syndrome which may be associated with arthrogryposisCreated: 4 Jan 2017, 10:11 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Mode of pathogenicity
Other
Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931 to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
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 CHRNE were set to 20301347
Phenotypes for CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel 605809; Myasthenic syndrome, congenital, 4B, fast-channel 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Mode of inheritance for CHRNE was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
CHRNE was added to Arthrogryposispanel. Source: UKGTN CHRNE was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services CHRNE was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHRNE was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
CHRNE was added to Arthrogryposispanel. Sources: Expert list
CHRNE was created by ellenmcdonagh