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Ataxia and cerebellar anomalies - narrow panel v2.177 | VRK1 | Arina Puzriakova Phenotypes for gene: VRK1 were changed from Pontocerebellar Hypoplasia type 1A; Pontocerebellar Hypoplasia with infantile SMA; Pontocerebellar Hypoplasia with anterior horn cell disease; Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 1A (#607596); Pontocerebellar hypoplasia type 1A,607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | VRK1 | Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 1A (#607596) for gene: VRK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | VRK1 |
Ellen McDonagh gene: VRK1 was added gene: VRK1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to PMID: 21937992; PMID: 19646678; 24126608 Phenotypes for gene: VRK1 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia with anterior horn cell disease; Pontocerebellar hypoplasia type 1A,607596; Pontocerebellar Hypoplasia with infantile SMA; Pontocerebellar Hypoplasia type 1A |