Early onset or syndromic epilepsy
Gene: ARFGEF1
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
Removed the gene-checked tag as there is now a relevant phenotype in OMIM for this gene.Created: 21 Nov 2022, 4:12 p.m. | Last Modified: 21 Nov 2022, 4:12 p.m.
Panel Version: 2.604
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (probable) but not in OMIM. There are >3 unrelated cases. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 20 Oct 2021, 10:53 a.m. | Last Modified: 20 Oct 2021, 10:57 a.m.
Panel Version: 2.449
13 individuals reported with variants in this gene and a neurodevelopmental disorder characterised by variable ID, seizures present in around half. Variants were inherited from mildly affected parents in 40% of families.
Sources: LiteratureCreated: 11 Oct 2021, 7:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability; Epilepsy
Publications
Tag Q4_21_rating was removed from gene: ARFGEF1.
Source Expert Review Green was added to ARFGEF1. Source NHS GMS was added to ARFGEF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag gene-checked was removed from gene: ARFGEF1.
Phenotypes for gene: ARFGEF1 were changed from Intellectual disability, MONDO:0001071; Epilepsy, MONDO:0005027 to Intellectual disability, MONDO:0001071; Epilepsy, MONDO:0005027; Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964
Tag gene-checked tag was added to gene: ARFGEF1.
gene: ARFGEF1 was added gene: ARFGEF1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Amber Q4_21_rating tags were added to gene: ARFGEF1. Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARFGEF1 were set to 34113008 Phenotypes for gene: ARFGEF1 were set to Intellectual disability, MONDO:0001071; Epilepsy, MONDO:0005027