Malformations of cortical development

Gene: NEDD4L

Green List (high evidence)

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Mutations identified in at least six families. Animal models also exist. Probable disease causing gene in G2P
Created: 15 Dec 2016, 4:01 p.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Periventricular nodular heterotopia 7 617201
OMIM
606384
Clinvar variants
Variants in NEDD4L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for NEDD4L were set to 27694961

15 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for NEDD4L were set to Periventricular nodular heterotopia 7 617201

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

NEDD4L was added to Malformations of cortical developmentpanel. Sources: Expert Review

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

NEDD4L was created by Ushak