Periventricular Grey Matter Heterotopia
Gene: ARFGEF2

ARFGEF2 (ADP ribosylation factor guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000124198
EnsemblGeneIds (GRCh37): ENSG00000124198
OMIM: 605371, Gene2Phenotype
ARFGEF2 is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25160555;
- 2 siblings homozygous for a nonsense variant

PMID: 26126837;
- 1x proband homozygous for a nonsense variant

PMID: 23812912;
- 4 siblings + 1 cousin homozygous for a splice variant
Created: 24 Aug 2020, 5:17 a.m. | Last Modified: 24 Aug 2020, 5:17 a.m.

Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periventricular heterotopia with microcephaly (MIM#608097)

Publications

Created: 24 Aug 2020, 5:17 a.m.
Last Modified: 24 Aug 2020, 5:17 a.m.
Panel version: 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Australian Genomics Health Alliance Brain Malformation Flagship
Victorian Clinical Genetics Services

Phenotypes

Periventricular heterotopia with microcephaly (MIM#608097)

OMIM

605371

Clinvar variants

Variants in ARFGEF2

Penetrance

None

Publications

Panels with this gene