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  3. NEB
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Congenital muscular dystrophy and congenital myopathy

Gene: NEB

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on mode of inheritance: As reviewed by Anna Sarkozy, a dominantly inherited variant in the NEB gene (∼100 kb in-frame deletion) has been reported in a three-generation family in PMID:30679003. As there is only one case reported currently with monoallelic inheritance, the MOI will remain as "Biallelic, autosomal or pseudoautosmal" for now. "watchlist_moi" tag has been added to review MOI on a regular basis.
Created: 24 Dec 2023, 10:20 p.m. | Last Modified: 24 Dec 2023, 10:20 p.m.
Panel Version: 0.214
Anna Sarkozy (Great Ormond Street Hospital) editing her previous review on this gene on the old GMS Congenital myopathy panel on 24 Mar 2023 notes (rated Green): 'comment re inheritance: a large in frame deletion in the NEB gene have now been described in a three-generation family and was shown to cause the production of a smaller mutant nebulin protein. Thus, it was suggested that this novel mutant nebulin protein has a dominant-negative effect.'

Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes: nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030; Dominantly inherited distal nemaline/cap myopathy

Publications: 12207937; 30679003
Created: 24 Dec 2023, 9:57 p.m. | Last Modified: 24 Dec 2023, 9:57 p.m.
Panel Version: 0.213
Created: 24 Dec 2023, 9:57 p.m.
Last Modified: 24 Dec 2023, 9:57 p.m.
Panel version: 0.213

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.78

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.78

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.78

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Many families, truncating mutations.
Created: 2 Feb 2017, 12:01 p.m.
Multiple families, truncating mutations seen, congenital onset.
Created: 26 Jan 2017, 11:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 2, autosomal recessive 256030

Publications

Created: 26 Jan 2017, 11:46 a.m.

Copied from panel: Congenital myopathy v3.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • NHS GMS
  • Expert
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, OMIM:256030
Tags
watchlist_moi
OMIM
161650
Clinvar variants
Variants in NEB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Dec 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist_moi tag was added to gene: NEB.

24 Dec 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: NEB was added gene: NEB was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 12207937 Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, OMIM:256030 Penetrance for gene: NEB were set to Complete