Limb girdle muscular dystrophyGene: CLCN1
Comment 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: 1.177
Gene: clcn1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to CLCN1.
Source Yorkshire and North East GLH was added to CLCN1.
Mode of inheritance for gene CLCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myotonia congenita, dominant, 160800 for gene: CLCN1 Publications for gene CLCN1 were changed from to 8112288; 7981750
gene: CLCN1 was added gene: CLCN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CLCN1 was set to