Periventricular Grey Matter Heterotopia
Gene: ARF1
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
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 listCreated: 5 Jul 2020, 7:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 8, MIM# 618185
Publications
Gene: arf1 has been classified as Green List (High Evidence).
Gene: arf1 has been classified as Green List (High Evidence).
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