ARF3

ADP ribosylation factor 3
OMIM: 103190, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ARF3 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability, MONDO:0001071
  • Seizures
  • Morphological abnormality of the central nervous system
  • microcephaly, MONDO:0001149
Tags
  • gene-checked
Green ARF3 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARF3-related neurodevelopmental disorder
    Tags
    • de novo
    • gene-checked
    Green ARF3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability, MONDO:0001071
    • Seizures
    • Morphological abnormality of the central nervous system
    • microcephaly, MONDO:0001149
    Tags
    • gene-checked
    Green ARF3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability, MONDO:0001071
    • Seizures
    • Morphological abnormality of the central nervous system
    • microcephaly, MONDO:0001149
    Tags
    • gene-checked