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Fetal anomalies

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 9 panels

2 reviews

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 9 Sep 2020, 5:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia; polymicrogyria; syndactyly

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated individuals reported with PVNH, DD/ID common.
Created: 7 Dec 2019, 8:10 p.m. | Last Modified: 7 Dec 2019, 8:10 p.m.
Panel Version: 0.862

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 7, MIM#617201

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Periventricular nodular heterotopia 7, MONDO:0014966
  • Periventricular nodular heterotopia 7, OMIM:617201
OMIM
606384
Clinvar variants
Variants in NEDD4L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nedd4l has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NEDD4L were set to

15 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NEDD4L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nedd4l has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEDD4L was added gene: NEDD4L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7, MONDO:0014966; Periventricular nodular heterotopia 7, OMIM:617201