PanelApp (staging)
  1. Genes and Genomic Entities
  2. ARFGEF1

ARFGEF1

ADP ribosylation factor guanine nucleotide exchange factor 1
OMIM: 604141, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ARFGEF1 in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964

Green ARFGEF1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964

    Green ARFGEF1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964