NEDD4L

NEDD4 like E3 ubiquitin protein ligase
OMIM: 606384, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green NEDD4L in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Periventricular nodular heterotopia 7, MIM# 617201
  • polymicrogyria
  • syndactyly

Green NEDD4L in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review 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

Green NEDD4L in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular nodular heterotopia 7, MIM# 617201

Green NEDD4L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Periventricular nodular heterotopia 7, MIM#617201

Green NEDD4L in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Periventricular nodular heterotopia 7, MIM#617201

Red NEDD4L in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Epilepsy, photosensitive generalised

Green NEDD4L in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews 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

Green NEDD4L in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Genetic Health Queensland
Phenotypes
  • Periventricular nodular heterotopia 7, MONDO:0014966
  • Periventricular nodular heterotopia 7, OMIM:617201

Red NEDD4L in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, photosensitive generalised