Ataxia and cerebellar anomalies - narrow panelGene: RARS2
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes epilepsy; Pontocerebellar hypoplasia for gene: RARS2
gene: RARS2 was added gene: RARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS2 were set to PMID: 25809939; PMID: 17847012; PMID: 20635367 Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 6