Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: COL12A1Comment 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: 1.176
congenital myopathyCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bethlem myopathy; Ullrich congenital muscular dystrophy
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ullrich congenital muscular dystrophy 2, 616470
Publications
Gene: col12a1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to COL12A1.
Source Yorkshire and North East GLH was added to COL12A1.
Phenotypes for gene: COL12A1 were changed from Ullrich congenital muscular dystrophy 2, 616470 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy
Mode of inheritance for gene COL12A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Ullrich congenital muscular dystrophy 2, 616470 for gene: COL12A1 Publications for gene COL12A1 were changed from to 24334604
gene: COL12A1 was added gene: COL12A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: COL12A1 was set to