ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2
OMIM: 605371
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly 608097
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular heterotopia with microcephaly, 608097, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Periventricular nodular heterotopia