Gene Symbol:
ARFGEF2
HGNC:15853
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
20q13.13
Filters:

Invitae classifications

periventricular heterotopia with microcephaly, autosomal recessive
Submitted as: OMIM:608097
AR
12/14/2018
Evaluated
11/30/2023
Submitted

Orphanet classifications

periventricular nodular heterotopia
Submitted as: Orphanet:98892
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

periventricular heterotopia with microcephaly, autosomal recessive
Submitted as: OMIM:608097
AR
07/22/2015
Evaluated
09/11/2023
Submitted

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