Genomics England
GMS Panels
Panels
Genes and Entities

ARFGEF1

ADP ribosylation factor guanine nucleotide exchange factor 1
OMIM: 604141
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ARFGEF1-related intellectual disability and epilepsy
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, MONDO:0001071, Epilepsy, MONDO:0005027, Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, MONDO:0001071, Epilepsy, MONDO:0005027, Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964