ARF1

ADP ribosylation factor 1
OMIM: 103180, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ARF1 in Malformations of cortical development


Level 2: Neurology
Version 7.50
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Periventricular nodular heterotopia 8, OMIM:618185
    Amber ARF1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.186
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Periventricular nodular heterotopia 8, OMIM:618185
    Green ARF1 in DDG2P


    Version 6.447
    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
    • PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
    Green ARF1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.177
    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, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Periventricular nodular heterotopia 8, OMIM:618185
    Green ARF1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    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, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Periventricular nodular heterotopia 8, OMIM:618185