Muscular dystrophy and myopathy_Paediatric
Gene: NEB
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
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
Gene: neb has been classified as Green List (High Evidence).
Gene: neb has been classified as Green List (High Evidence).
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