Genomics England
GMS Panels
Panels
Genes and Entities

ARFGEF1

ADP ribosylation factor guanine nucleotide exchange factor 1
OMIM: 604141
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
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 - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
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