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  2. Early onset or syndromic epilepsy
  3. ARF1
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Early onset or syndromic epilepsy

Gene: ARF1

Green List (high evidence)
ARF1 (ADP ribosylation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000143761
EnsemblGeneIds (GRCh37): ENSG00000143761
OMIM: 103180, Gene2Phenotype
ARF1 is in 5 panels

3 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
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

Created: 3 Sep 2021, 2:24 p.m.
Last Modified: 3 Sep 2021, 2:24 p.m.
Copied from panel: Malformations of cortical development v2.62

Ivone Leong (Genomics England Curator)

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
Created: 17 Aug 2021, 1:42 p.m.
Last Modified: 17 Aug 2021, 1:42 p.m.
Copied from panel: Malformations of cortical development v2.62

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with de novo missense in this gene.
Sources: Expert list
Created: 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

Created: 24 Aug 2020, 11:02 a.m.

Copied from panel: Malformations of cortical development v2.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, OMIM:618185
OMIM
103180
Clinvar variants
Variants in ARF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: ARF1.

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 ARF1. Source NHS GMS was added to ARF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Sep 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

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