| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.79 | ISG15 | Zornitza Stark Marked gene: ISG15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.79 | ISG15 | Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.79 | ISG15 | Zornitza Stark Classified gene: ISG15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.79 | ISG15 | Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | ISG15 |
Yetong Chen 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 Added comment: 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 |
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