Congenital myopathy
Gene: NEBEnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 9 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on 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: 4 Apr 2023, 8:13 a.m. | Last Modified: 4 Apr 2023, 8:13 a.m.
Panel Version: 4.22
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Anna Sarkozy (Great Ormond Street Hospital)
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.Created: 24 Mar 2023, 12:53 p.m. | Last Modified: 24 Mar 2023, 12:53 p.m.
Panel Version: 4.2
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
Helen Brittain (Genomics England Curator)
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
- PMID 12207937
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Nemaline myopathy 2, autosomal recessive, OMIM:256030
- Tags
- OMIM
- 161650
- Clinvar variants
- Variants in NEB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NEB were set to 12207937
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag watchlist_moi tag was added to gene: NEB.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NEB were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, OMIM:256030
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NEB.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to NEB. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for NEB were set to 12207937
Added New Source
Eik Haraldsdottir (Genomics England)NEB was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()NEB was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()NEB was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()NEB was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()NEB was added to Congenital myopathypanel. Sources: UKGTN