1. Genes and Genomic Entities
  2. ARFGEF1

ARFGEF1

ADP ribosylation factor guanine nucleotide exchange factor 1
OMIM: 604141, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ARFGEF1 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
    • ARFGEF1-related intellectual disability and epilepsy
    Green ARFGEF1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • Epilepsy, MONDO:0005027
    • Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964
    Green ARFGEF1 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
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • Epilepsy, MONDO:0005027
    • Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964