Autoinflammatory Disorders
Gene: RNF31EnsemblGeneIds (GRCh38): ENSG00000092098
EnsemblGeneIds (GRCh37): ENSG00000092098
OMIM: 612487, Gene2Phenotype
RNF31 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated individuals reported.
Sources: Expert ReviewCreated: 30 Nov 2023, 1:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 115 with autoinflammation, MIM# 620632
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Immunodeficiency 115 with autoinflammation, MIM# 620632
- OMIM
- 612487
- Clinvar variants
- Variants in RNF31
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RNF31 was added gene: RNF31 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF31 were set to 26008899; 30936877 Phenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation, MIM# 620632 Review for gene: RNF31 was set to AMBER