Autoinflammatory Disorders
Gene: ARF1
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
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: LiteratureCreated: 30 May 2025, 5:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Interferonopathy
Publications
Gene: arf1 has been classified as Green List (High Evidence).
Phenotypes for gene: ARF1 were changed from Interferonopathy to Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related
Gene: arf1 has been classified as Green List (High Evidence).
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