1. Genes and Genomic Entities
  2. ARFGEF2

ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2
OMIM: 605371, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ARFGEF2 in Malformations of cortical development


Level 2: Neurology
Version 7.39
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review
    Phenotypes
    • Periventricular nodular heterotopia
    Green ARFGEF2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Periventricular heterotopia with microcephaly, OMIM:608097
    Green ARFGEF2 in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
    Green ARFGEF2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.153
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular heterotopia with microcephaly 608097
    Green ARFGEF2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.318
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Periventricular heterotopia with microcephaly, 608097
    • PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY