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  3. RNF31
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Combined Immunodeficiency

Gene: RNF31

Amber List (moderate evidence)
RNF31 (ring finger protein 31)
EnsemblGeneIds (GRCh38): ENSG00000092098
EnsemblGeneIds (GRCh37): ENSG00000092098
OMIM: 612487, Gene2Phenotype
RNF31 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported.
Created: 11 Apr 2020, 8:42 a.m. | Last Modified: 11 Apr 2020, 8:42 a.m.
Panel Version: 0.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 115 with autoinflammation, MIM# 620632

Publications

Created: 11 Apr 2020, 8:42 a.m.
Last Modified: 11 Apr 2020, 8:42 a.m.
Panel version: 1.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 115 with autoinflammation, MIM# 620632
OMIM
612487
Clinvar variants
Variants in RNF31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNF31 were changed from Immune deficiency; Autoinflammation to Immunodeficiency 115 with autoinflammation, MIM# 620632

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf31 has been classified as Amber List (Moderate Evidence).

11 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation

11 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNF31 were set to

11 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf31 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNF31 was added gene: RNF31 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RNF31 was set to Unknown