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  2. Clefting disorders
  3. NEDD4L
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Clefting disorders

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Literature
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Periventricular nodular heterotopia 7 (includes clefting), 617201
  • Cleft palate
  • Cleft palate, toe syndactyly, periventricular nodular heterotopia
OMIM
606384
Clinvar variants
Variants in NEDD4L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEDD4L was added gene: NEDD4L was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature,Expert Review Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEDD4L were set to 27694961 Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7 (includes clefting), 617201; Cleft palate; Cleft palate, toe syndactyly, periventricular nodular heterotopia