Brain Calcification
Gene: VARS2EnsemblGeneIds (GRCh38): ENSG00000137411
EnsemblGeneIds (GRCh37): ENSG00000137411
OMIM: 612802, Gene2Phenotype
VARS2 is in 7 panels
1 review
Yetong Chen (University of Melbourne)
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 listCreated: 9 May 2023, 2:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 20, MIM# 615917
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 20, MIM# 615917
- OMIM
- 612802
- Clinvar variants
- Variants in VARS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vars2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vars2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)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