Limb girdle muscular dystrophy

Gene: NEB

Red List (low evidence)

NEB (nebulin)
EnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 9 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

Nemaline myopathy. Variable disease spectrum from severe early onset to milder late onset. Usually CK normal or mildly raised
Created: 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

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 2, autosomal recessive, 256030

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, 256030
  • congenital myopathy
OMIM
161650
Clinvar variants
Variants in NEB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: neb has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: neb has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NEB.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to NEB.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, 256030; congenital myopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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