PanelApp (staging)
  1. Genes and Genomic Entities
  2. NEDD4L

NEDD4L

neural precursor cell expressed, developmentally down-regulated 4-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 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  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 1.2

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  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 1.2302

    		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 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  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 1.63

    		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 0.278

    		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 0.260

    		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 1.313

    		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 BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

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