PanelApp (staging)
  1. Genes and Genomic Entities
  2. ARFGEF2

ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2
OMIM: 605371, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ARFGEF2 in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.2

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular heterotopia with microcephaly (MIM#608097)

    Green ARFGEF2 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular heterotopia with microcephaly (MIM#608097)

    Green ARFGEF2 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.295

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular heterotopia with microcephaly (MIM#608097)

    Green ARFGEF2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular heterotopia with microcephaly (MIM#608097)

    Green ARFGEF2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ARFGEF2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Periventricular heterotopia with microcephaly (MIM#608097)

    Green ARFGEF2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Periventricular heterotopia with microcephaly, 608097 (3)

    Green ARFGEF2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Periventricular heterotopia with microcephaly

    Green ARFGEF2 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Periventricular heterotopia with microcephaly, OMIM:608097

    Green ARFGEF2 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Periventricular heterotopia with microcephaly, MIM#608097

    Red ARFGEF2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Periventricular heterotopia with microcephaly (MIM#608097)