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Intellectual disability syndromic and non-syndromic

Gene: VARS

Green List (high evidence)

VARS (valyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000204394
EnsemblGeneIds (GRCh37): ENSG00000204394
OMIM: 192150, Gene2Phenotype
VARS is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

14 families with 20 affected individuals
- homozygous missense or compound heterozygous mutations in VARS
- mutations segregated with the disorder in the families
- functional studies in some cases
Sources: Expert list
Created: 12 Feb 2020, 4:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
  • OMIM #617802
OMIM
192150
Clinvar variants
Variants in VARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vars has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: vars has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: vars has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: VARS was added gene: VARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004 Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802 Review for gene: VARS was set to GREEN