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 8.0
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
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly 608097
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly, OMIM:608097
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
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
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular nodular heterotopia