Muscular dystrophy and myopathy_Paediatric
Gene: NEBEnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 10 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 25205138
Multiple individuals diagnosed with nemaline myopathy 2 in a well-established gene with variable age of onset
Sources: OtherCreated: 5 May 2023, 1:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline Myopathy 2 (MIM#256030; MONDO: 0009725)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Variable age of onset, including in infancy. PMID: 25205138:
- early-onset distal myopathy without nemaline bodies - a distal form of NM - core-rod myopathy with generalized muscle weakness - childhood-onset distal myopathy with rods and cores - fetal akinesia/lethal multiple pterygium syndrome. Mutational hotspot at donor splice sites of intron 32 (c.3255+1 and c.3255+2)
Sources: Expert listCreated: 3 Jun 2020, 9:05 a.m. | Last Modified: 9 Jul 2020, 11:34 a.m.
Panel Version: 0.251
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 2, autosomal recessive, MIM# 256030
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Phenotypes
-
- Nemaline Myopathy 2 (MIM#256030
- MONDO: 0009725)
- OMIM
- 161650
- Clinvar variants
- Variants in NEB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: neb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: neb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: NEB was added gene: NEB was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 25205138 Phenotypes for gene: NEB were set to Nemaline Myopathy 2 (MIM#256030; MONDO: 0009725) Review for gene: NEB was set to GREEN