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Intellectual disability

Gene: VARS2

Amber List (moderate evidence)

VARS2 (valyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000137411
EnsemblGeneIds (GRCh37): ENSG00000137411
OMIM: 612802, Gene2Phenotype
VARS2 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - >3 unrelated families with different variants. Severe psychomotor delay was an early and significant manifestation on clinical evaluation.
Created: 16 Sep 2020, 10:20 a.m. | Last Modified: 16 Sep 2020, 10:20 a.m.
Panel Version: 3.300

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype of this metabolic disorder.
Sources: Expert list
Created: 2 Mar 2020, 7:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 20, OMIM #615917

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, OMIM #615917
Tags
for-review
OMIM
612802
Clinvar variants
Variants in VARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: vars2 has been classified as Amber List (Moderate Evidence).

16 Sep 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: VARS2.

2 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: VARS2 was added gene: VARS2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS2 were set to 24827421; 25058219; 29137650; 29314548; 31064326 Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM #615917 Review for gene: VARS2 was set to GREEN gene: VARS2 was marked as current diagnostic