Microcephaly
Gene: RARS2

RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive microcephaly is part of the phenotype. At least three unrelated families reported.
Created: 3 Sep 2020, 6:08 a.m. | Last Modified: 3 Sep 2020, 6:08 a.m.

Panel Version: 0.414

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, MIM# 611523

Publications

Created: 3 Sep 2020, 6:08 a.m.
Last Modified: 3 Sep 2020, 6:08 a.m.
Panel version: 0.414

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pontocerebellar hypoplasia, type 6, MIM# 611523

OMIM

611524

Clinvar variants

Variants in RARS2

Penetrance

None

Publications

Panels with this gene