1. Panels
  2. Polymicrogyria and Schizencephaly
  3. NEDD4L
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Polymicrogyria and Schizencephaly

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

1 review

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

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

Panel version: 0.142

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Periventricular nodular heterotopia 7, MIM# 617201
  • polymicrogyria
  • syndactyly
OMIM
606384
Clinvar variants
Variants in NEDD4L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2020, 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).

9 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nedd4l has been removed from the panel.

9 Sep 2020, Gel status: 0

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Sep 2020, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: NEDD4L was added gene: NEDD4L was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEDD4L were set to 27694961; 28515470; 30393983 Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia; polymicrogyria; syndactyly Review for gene: NEDD4L was set to GREEN