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  3. ARFGEF1
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Early onset or syndromic epilepsy

Gene: ARFGEF1

Green List (high evidence)
ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000066777
EnsemblGeneIds (GRCh37): ENSG00000066777
OMIM: 604141, Gene2Phenotype
ARFGEF1 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 9:39 a.m.
Last Modified: 1 Feb 2023, 9:39 a.m.
Panel version: 3.29

Eleanor Williams (Genomics England Curator)

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
Created: 21 Nov 2022, 4:12 p.m.
Last Modified: 21 Nov 2022, 4:12 p.m.
Panel version: 2.604

Ivone Leong (Genomics England Curator)

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
Created: 20 Oct 2021, 10:53 a.m.
Last Modified: 20 Oct 2021, 10:57 a.m.
Copied from panel: Intellectual disability v3.1376

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 11 Oct 2021, 7:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Epilepsy

Publications

Created: 11 Oct 2021, 7:22 a.m.

Copied from panel: Intellectual disability v3.1376

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
  • Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964
OMIM
604141
Clinvar variants
Variants in ARFGEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: ARFGEF1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

21 Nov 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: ARFGEF1.

21 Nov 2022, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

8 May 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: ARFGEF1.

20 Oct 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

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