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  2. Defects of intrinsic and innate immunity
  3. ISG15
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Defects of intrinsic and innate immunity

Gene: ISG15

Green List (high evidence)
ISG15 (ISG15 ubiquitin-like modifier)
EnsemblGeneIds (GRCh38): ENSG00000187608
EnsemblGeneIds (GRCh37): ENSG00000187608
OMIM: 147571, Gene2Phenotype
ISG15 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 16 Mar 2022, 9:44 a.m. | Last Modified: 16 Mar 2022, 9:44 a.m.
Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 38, MIM# 616126

Publications

Created: 16 Mar 2022, 9:44 a.m.
Last Modified: 16 Mar 2022, 9:44 a.m.
Panel version: 0.97

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 38, MIM# 616126
OMIM
147571
Clinvar variants
Variants in ISG15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: isg15 has been classified as Green List (High Evidence).

16 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ISG15 were changed from to Immunodeficiency 38, MIM# 616126

16 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ISG15 were set to

16 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ISG15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ISG15 was added gene: ISG15 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ISG15 was set to Unknown