Congenital myopathy
Gene: NEBComment 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
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.
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
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
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
Tag watchlist_moi tag was added to gene: NEB.
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
Source NHS GMS was added to NEB.
Source London South GLH was added to NEB. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
This gene has been classified as Green List (High Evidence).
Publications for NEB were set to 12207937
NEB was added to Congenital myopathypanel. Sources: Expert
NEB was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
NEB was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
NEB was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory
NEB was added to Congenital myopathypanel. Sources: UKGTN