Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 3 actions
17 May 2021	Ataxia and cerebellar anomalies - narrow panel v2.176	SPTBN2	Arina Puzriakova Phenotypes for gene: SPTBN2 were changed from Spinocerebellar ataxia 5 (AD); Spinocerebellar ataxia, autosomal recessive 14; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia, autosomal recessive 14 (AR); Spinocerebellar ataxia 5; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant) to Spinocerebellar ataxia 5, OMIM:600224; Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
19 Dec 2018	Ataxia and cerebellar anomalies - narrow panel v0.5	SPTBN2	Ellen McDonagh Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia, autosomal recessive 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia 5 for gene: SPTBN2
19 Dec 2018	Ataxia and cerebellar anomalies - narrow panel v0.5	SPTBN2	Ellen McDonagh gene: SPTBN2 was added gene: SPTBN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia 5 (AD); Spinocerebellar ataxia, autosomal recessive 14 (AR)