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  3. ARFGEF2
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Microcephaly

Gene: ARFGEF2

Green List (high evidence)
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three families reported.
Created: 24 Aug 2020, 8:07 a.m. | Last Modified: 24 Aug 2020, 8:07 a.m.
Panel Version: 0.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periventricular heterotopia with microcephaly (MIM#608097)

Publications

Created: 24 Aug 2020, 8:07 a.m.
Last Modified: 24 Aug 2020, 8:07 a.m.
Panel version: 0.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

History Filter Activity

24 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arfgef2 has been classified as Green List (High Evidence).

24 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)

24 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARFGEF2 were set to

24 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARFGEF2 was added gene: ARFGEF2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARFGEF2 was set to Unknown