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Intellectual disability

Gene: NEDD4L

Amber List (moderate 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 7 panels

5 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting this gene from red to amber, but there are sufficient cases with a severe developmental delay phenotype for it to be rated green. It should therefore be reviewed at the next GMS update.
Created: 8 Oct 2020, 8:58 p.m. | Last Modified: 8 Oct 2020, 8:58 p.m.
Panel Version: 3.409
Associated with Periventricular nodular heterotopia 7 #617201 (AD) in OMIM.

PMID: 27694961 - Broix et al 2016 - report 4 different de novo missense changes in NEDD4L in a total of five unrelated patients with periventricular nodular heterotopia and neurodevelopmental delay, and in a additional familial case with a similar phenotype and a previously found missense variant. In the familial case, two affected siblings were found to be heterozygous for the variant, the father and an unaffected sibling did not carry the variant, and the mother was found to show somatic mosaicism of NEDD4L variant. Functional studies showed a sensitivity of PNH-associated mutants to proteasome degradation. Seizures were reported in some but not all affected individuals.
Created: 8 Oct 2020, 8:51 p.m. | Last Modified: 8 Oct 2020, 9:01 p.m.
Panel Version: 3.410

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Periventricular nodular heterotopia 7, 617201

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Developmental delay reported in all individuals in this series, and described as severe in several.
Created: 5 Mar 2020, 7:36 a.m. | Last Modified: 5 Mar 2020, 7:36 a.m.
Panel Version: 3.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 7, MIM#617201

Publications

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

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

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

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

History Filter Activity

8 Oct 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: NEDD4L.

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nedd4l has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nedd4l has been classified as Red List (Low Evidence).

8 Oct 2020, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NEDD4L were changed from EPILEPTIC ENCEPHALOPATHY to Periventricular nodular heterotopia 7, 617201

8 Oct 2020, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NEDD4L were set to 23934111

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.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NEDD4L was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NEDD4L was added to Intellectual disabilitypanel. Sources: Expert Review Red