Muscular dystrophy and myopathy_Paediatric

Gene: NEB

Green List (high evidence)

NEB (nebulin)
EnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 10 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 25205138
Multiple individuals diagnosed with nemaline myopathy 2 in a well-established gene with variable age of onset
Sources: Other
Created: 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)

Green List (high evidence)

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 list
Created: 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

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: neb has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: neb has been classified as Green List (High Evidence).

5 May 2023, Gel status: 0

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