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Ataxia and cerebellar anomalies - narrow panel v0.5 | RARS2 | Ellen McDonagh Added phenotypes epilepsy; Pontocerebellar hypoplasia for gene: RARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | RARS2 |
Ellen McDonagh 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 |