Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: NEBComment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 4:40 p.m. | Last Modified: 28 Nov 2019, 4:40 p.m.
Panel Version: 1.137
Nemaline myopathy. Variable disease spectrum from severe early onset to milder late onset. Usually CK normal or mildly raisedCreated: 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 myopathy; nemaline myopathy
Publications
Gene: neb has been classified as Red List (Low Evidence).
Gene: neb has been classified as Red List (Low Evidence).
Source NHS GMS was added to NEB.
Source Yorkshire and North East GLH was added to NEB.
Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, 256030; congenital myopathy
Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB Publications for gene NEB were changed from to 9359044; 12207937
gene: NEB was added gene: NEB was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: NEB was set to