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Brain Calcification

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

Yetong Chen (University of Melbourne)

Green List (high evidence)

Brain calcification is consistently observed in patients with biallelic pathogenic variants in ISG15.
PMID 25307056 reports 5 patients (patients P1-3, P5 and P6) from 3 unrelated families who had ISG15 variants and developed brain calcification. In this paper, patient P4 was from the same family as patients P5 and P6; however, P4 only had inferred genotype so she is not counted here.
PMID 32944031 reports a patient with compound heterozygous ISG15 variants who developed brain calcification.
Sources: Expert list
Created: 20 Apr 2023, 2:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 38 with BG calcification, MIM# 616126

Publications

Created: 20 Apr 2023, 2:21 a.m.

Panel version: 1.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 38 with BG calcification, MIM# 616126
OMIM
147571
Clinvar variants
Variants in ISG15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2023, 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).

4 May 2023, 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).

20 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: ISG15 was added gene: ISG15 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISG15 were set to 25307056; 32944031 Phenotypes for gene: ISG15 were set to Immunodeficiency 38 with BG calcification, MIM# 616126 Review for gene: ISG15 was set to GREEN