Early onset or syndromic epilepsy
Gene: ARF1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Added to this panel as seizures have been reported in 3/5 cases. Epilepsy is likely to arise in these cases prior to detection of cortical malformations and may prompt earlier genetic investigation. Inclusion on this panel could increase the likelihood of detecting cases and therefore a Green rating is warranted.Created: 3 Sep 2021, 2:44 p.m. | Last Modified: 3 Sep 2021, 2:44 p.m.
Panel Version: 2.411
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 8, OMIM:618185
Publications
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)
gene: ARF1 was added gene: ARF1 was added to Genetic epilepsy syndromes. Sources: Expert list,Expert Review Amber Q3_21_rating tags were added to gene: ARF1. Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARF1 were set to 28868155; 34353862 Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185