Malformations of cortical development
Gene: ARF1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Comment on publications: Gana et al., 2021 (PMID: 34353862) - additional family identified with a 5-year-old girl who inherited a heterozygous nonsense variant in the ARF1 gene (c.234G>A; p.Trp78Ter) from her father. Both displayed periventricular nodular heterotopia on brain MRI but with milder clinical expression in the father.Created: 3 Sep 2021, 2:24 p.m. | Last Modified: 3 Sep 2021, 2:24 p.m.
Panel Version: 2.62
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 17 Aug 2021, 1:42 p.m. | Last Modified: 17 Aug 2021, 1:42 p.m.
Panel Version: 2.55
Three unrelated individuals reported with de novo missense in this gene.
Sources: Expert listCreated: 24 Aug 2020, 11:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 8, MIM# 618185
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: ARF1.
Source Expert Review Green was added to ARF1. Source NHS GMS was added to ARF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ARF1 were set to 28868155
Tag Q3_21_rating tag was added to gene: ARF1.
Gene: arf1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ARF1 were changed from Periventricular nodular heterotopia 8, MIM# 618185 to Periventricular nodular heterotopia 8, OMIM:618185
gene: ARF1 was added gene: ARF1 was added to Malformations of cortical development. 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 gene: ARF1 was marked as current diagnostic