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Intellectual disability

Gene: NEB

Red List (low evidence)

NEB (nebulin)
EnsemblGeneIds (GRCh38): ENSG00000183091
EnsemblGeneIds (GRCh37): ENSG00000183091
OMIM: 161650, Gene2Phenotype
NEB is in 8 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.

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

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEB was added to Intellectual disability panel. Sources: Gene2Phenotype

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NEB was created by Ellen McDonagh