Mitochondrial disease

Gene: RARS2

Green List (high evidence)

Phenotype described in most individuals is of a severe neonatal encephalopathy, with no or minimal motor milestones attained. Features suggestive of a mitochondrial disorder.

Created: 17 Apr 2020, 2:43 a.m. | Last Modified: 17 Apr 2020, 2:43 a.m.

Panel Version: 0.168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, MIM# 611523

Publications

• 17847012
• 25809939
• 20635367

Red List (low evidence)

Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia.
Sources: Expert list

Created: 16 Jan 2020, 11:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia

Publications

• 31429931