Cerebellar and Pontocerebellar Hypoplasia

Gene: RARS2

Green List (high evidence)

The mutation was predicted to result in skipping of exon 2, frameshift, and abolished enzymatic activity (PubMed: 17847012).

Li et al. (2015) reported mode of inheritance to be autosomal recessive.

Phenotype characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007).

Publications: PubMed: 17847012; 25809939; 20635367; 7607232

Created: 16 May 2024, 12:56 a.m. | Last Modified: 16 May 2024, 12:56 a.m.

Panel Version: 1.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pontocerebellar hypoplasia

Publications

• PubMed: 17847012
• PubMed: 25809939
• PubMed: 20635367
• PubMed: 7607232

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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. Progressive microcephaly.

At least 3 families reported.

Created: 14 Feb 2021, 6:59 a.m. | Last Modified: 14 Feb 2021, 6:59 a.m.

Panel Version: 0.191

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, MIM# 611523

Publications

• 17847012
• 20635367
• 25809939