Microcephaly
Gene: VARSEnsemblGeneIds (GRCh38): ENSG00000204394
EnsemblGeneIds (GRCh37): ENSG00000204394
OMIM: 192150, Gene2Phenotype
VARS is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
20 individuals from 14 families. Microcephaly is part of the phenotype.
Sources: Expert ReviewCreated: 6 Dec 2023, 9:40 p.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 Review
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vars has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vars has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VARS was added gene: VARS was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VARS were set to 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