Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SPTBN2

Green List (high evidence)

SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 12 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • 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)
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)