1. Genes and Genomic Entities
  2. ADNP

ADNP

activity dependent neuroprotector homeobox
OMIM: 611386, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ADNP in Autism


Version 0.36

review Not set
Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • Helsmoortel-Van der Aa syndrome
  • ID, EPS, DD/NDD, ASD
Green ADNP in Fetal anomalies


Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
Green ADNP in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
    Red ADNP in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.109
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Helsmoortel-van der Aa syndrome, OMIM:615873
    Green ADNP in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
    • MRD28
    Green ADNP in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Helsmoortel-van der Aa syndrome, 615873