Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DNM2Comment 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: 1.174
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
Centronuclear myopathy
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Centronuclear myopathy 1, 160150
Publications
Gene: dnm2 has been classified as Red List (Low Evidence).
Source NHS GMS was added to DNM2.
Source Yorkshire and North East GLH was added to DNM2.
Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, 160150 to Centronuclear myopathy 1, 160150; Centronuclear myopathy
Mode of inheritance for gene DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Centronuclear myopathy 1, 160150 for gene: DNM2 Publications for gene DNM2 were changed from to 17932957
gene: DNM2 was added gene: DNM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: DNM2 was set to