Autoinflammatory Disorders

Gene: ARF1

Green List (high evidence)

ARF1 (ADP ribosylation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000143761
EnsemblGeneIds (GRCh37): ENSG00000143761
OMIM: 103180, Gene2Phenotype
ARF1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals reported with missense changes at the same amino acid position, R99. Two demonstrated to be de novo.
Created: 9 Jun 2025, 9:37 a.m. | Last Modified: 9 Jun 2025, 9:37 a.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Developmental delay and skin lesions resembling familial chilblain lupus. Functional studies demonstrating aberrant type 1 interferon signalling. Included in IUIS panel of autoinflammatory disorders.
Sources: Literature
Created: 30 May 2025, 5:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Interferonopathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related
OMIM
103180
Clinvar variants
Variants in ARF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arf1 has been classified as Green List (High Evidence).

9 Jun 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARF1 were changed from Interferonopathy to Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related

9 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arf1 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: ARF1 was added gene: ARF1 was added to Autoinflammatory Disorders. Sources: Literature Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARF1 were set to PMID: 37914730 Phenotypes for gene: ARF1 were set to Interferonopathy Review for gene: ARF1 was set to GREEN