Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: CHRNDComment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:28 p.m. | Last Modified: 28 Nov 2019, 5:28 p.m.
Panel Version: 1.178
form of CMSCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Phenotypes
Congenital myasthenic syndrome
Publications
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 3A, slow-channel, 616321
Publications
Gene: chrnd has been classified as Red List (Low Evidence).
Source NHS GMS was added to CHRND.
Source Yorkshire and North East GLH was added to CHRND.
Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel, 616321 to Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Congenital myasthenic syndrome
Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 for gene: CHRND Publications for gene CHRND were changed from to 11782989
gene: CHRND was added gene: CHRND was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CHRND was set to