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Ataxia - adult onset

Gene: SPTBN2

Green List (high evidence)
SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia.
Sources: Expert list
Created: 17 Apr 2020, 12:18 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224

Publications

Created: 17 Apr 2020, 12:18 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.139

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 5, 600224
  • Spinocerebellar ataxia, autosomal recessive 14, 615386
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sptbn2 has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SPTBN2 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386 to Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPTBN2 was added gene: SPTBN2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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, AUTOSOMAL RECESSIVE 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386