Intellectual disability update Jan 2018
Gene: NEDD4L

NEDD4L (neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000049759
EnsemblGeneIds (GRCh37): ENSG00000049759
OMIM: 606384, Gene2Phenotype
NEDD4L is in 6 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Variants in this gene have been linked to Epileptic Encephalopathy, with a denovo mutation in one female out of 264 patients with infantile spasms or Lennox-Gastaut syndrome. Patient did display some mental regression, however unsure if this was due to the seizures or direct genetic impact. Evidence for variants in different genes noted in the study stronger than this link.
Created: 7 Mar 2018, 2:55 p.m.

Publications

23934111

Created: 7 Mar 2018, 2:55 p.m.

Panel version: 0.403

Details

Sources

Expert Review Red

OMIM

606384

Clinvar variants

Variants in NEDD4L

Penetrance

None

Panels with this gene

History Filter Activity

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEDD4L was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created