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  3. ARF1
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Periventricular Grey Matter Heterotopia

Gene: ARF1

Green List (high evidence)
ARF1 (ADP ribosylation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000143761
EnsemblGeneIds (GRCh37): ENSG00000143761
OMIM: 103180, Gene2Phenotype
ARF1 is in 5 panels

2 reviews

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

De novo missense variant (p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability, and motor stereotypies. Neuroimaging revealed a hypoplastic corpus callosum and subcortical white-matter abnormalities. Notably, this patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H).
Created: 1 Dec 2022, 3:29 a.m. | Last Modified: 1 Dec 2022, 3:29 a.m.
Panel Version: 1.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 8 (MIM#618185)

Publications

Created: 1 Dec 2022, 3:29 a.m.
Last Modified: 1 Dec 2022, 3:29 a.m.
Panel version: 1.1

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional report of affected parent and child.
Created: 5 Sep 2021, 2:36 a.m. | Last Modified: 5 Sep 2021, 2:36 a.m.
Panel Version: 0.19
Three unrelated individuals reported with de novo missense in this gene.
Sources: Expert list
Created: 5 Jul 2020, 7:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Periventricular nodular heterotopia 8, MIM# 618185

Publications

Created: 5 Jul 2020, 7:34 a.m.
Last Modified: 5 Sep 2021, 2:36 a.m.
Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, MIM# 618185
OMIM
103180
Clinvar variants
Variants in ARF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arf1 has been classified as Green List (High Evidence).

5 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arf1 has been classified as Green List (High Evidence).

5 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARF1 was added gene: ARF1 was added to Periventricular Grey Matter Heterotopia. Sources: Expert list Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARF1 were set to 28868155 Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, MIM# 618185 Review for gene: ARF1 was set to GREEN