| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.87 | VARS2 | Zornitza Stark Marked gene: VARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.87 | VARS2 | Zornitza Stark Gene: vars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.87 | VARS2 | Zornitza Stark Classified gene: VARS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.87 | VARS2 | Zornitza Stark Gene: vars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.83 | VARS2 |
Yetong Chen gene: VARS2 was added gene: VARS2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS2 were set to 29314548 Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, MIM# 615917 Review for gene: VARS2 was set to RED Added comment: Limited evidence supports the causal role of the VARS2 gene in brain calcification. PMID 29314548 reports a patient (Patient 5) with compound heterozygous VARS2 variants (c.1135G > A, p.Ala379Thr and c.1877C > A, p.Ala626Asp) who had symmetrical bilateral basal ganglia calcification. Sources: Expert list |
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