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Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
Cerebellar and Pontocerebellar Hypoplasia v0.203 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.202 SPTBN2 Zornitza Stark Mode of inheritance for gene: SPTBN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.201 SPTBN2 Zornitza Stark reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 33318253; Phenotypes: Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.0 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTBN2 was set to Unknown