Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: COLQComment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:27 p.m. | Last Modified: 28 Nov 2019, 5:27 p.m.
Panel Version: 1.175
CMSCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 5, 603034
Publications
Gene: colq has been classified as Red List (Low Evidence).
Source NHS GMS was added to COLQ.
Source Yorkshire and North East GLH was added to COLQ.
Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome
Mode of inheritance for gene COLQ was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ Publications for gene COLQ were changed from to 9689136
gene: COLQ was added gene: COLQ was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: COLQ was set to