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Periventricular Grey Matter Heterotopia
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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly.
Created: 5 Sep 2021, 3:08 a.m. | Last Modified: 5 Sep 2021, 3:08 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 7, MIM# 617201

Publications

Created: 5 Sep 2021, 3:08 a.m.
Last Modified: 5 Sep 2021, 3:08 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Australian Genomics Health Alliance Brain Malformation Flagship
Victorian Clinical Genetics Services

Phenotypes

Periventricular nodular heterotopia 7, MIM# 617201

OMIM

Clinvar variants

Variants in NEDD4L

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Sep 2021, 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).

5 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM# 617201

5 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NEDD4L were set to

5 Sep 2021, 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, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEDD4L was added gene: NEDD4L was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship Mode of inheritance for gene: NEDD4L was set to Unknown