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Intellectual disability

Gene: ARF1

Amber List (moderate evidence)

ARF1 (ADP ribosylation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000143761
EnsemblGeneIds (GRCh37): ENSG00000143761
OMIM: 103180, Gene2Phenotype
ARF1 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Added to ID panel as developmental delay (especially in speech) is a reported feature in all cases (except for one individuals for which only limited clinical information was available). Although only one patient has been reported with a moderate ID diagnosis, developmental delay is likely to be noticed earlier in the course of disease than cortical malformations and may prompt genetic investigation. Inclusion on this panel could increase the likelihood of detecting cases and therefore a Green rating is warranted.
Created: 3 Sep 2021, 2:38 p.m. | Last Modified: 3 Sep 2021, 2:38 p.m.
Panel Version: 3.1252
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

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, OMIM:618185
Tags
Q3_21_rating
OMIM
103180
Clinvar variants
Variants in ARF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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 Intellectual disability. 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