Genomics England
GMS Panels
Panels
Genes and Entities

ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2
OMIM: 605371
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly 608097
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly, OMIM:608097
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly, 608097, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular nodular heterotopia