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Intellectual disability update Jan 2018

Gene: NEB

Red List (low evidence)
NEB (nebulin)
EnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: added publications to support the phenotype
Created: 23 Feb 2018, 5:36 p.m.
This is a probable DD gene in Gene2Phenotype for autosomal recessive Nemaline myopathy, it has been associated to delayed motor development but not intellectual disability, which was reported as normal in all reported cases. There is currently no evidence to support that variants of this gene result in a intellectual disability phenotype.
Created: 23 Feb 2018, 5:32 p.m.
Created: 23 Feb 2018, 5:32 p.m.

Panel version: 0.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Gene2Phenotype
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, 256030
OMIM
161650
Clinvar variants
Variants in NEB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for NEB were set to 10051637; 12207937; 15221447; 16917880; 27933661

23 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for NEB were set to 10051637; 12207937; 15221447; 16917880

23 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NEB were set to Nemaline myopathy 2, autosomal recessive, 256030

23 Feb 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for NEB was changed from to BIALLELIC, autosomal or pseudoautosomal

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEB was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NEB was created by Ellen McDonagh