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  3. SPTBN2
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Cerebellar hypoplasia

Gene: SPTBN2

Green List (high evidence)
SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 11 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Offered as diagnostic test on UKGTN for SCA and SCAR. Eligibility criteria
Created: 3 Nov 2016, 11:35 a.m.
Created: 3 Nov 2016, 11:35 a.m.

Panel version: 0.56

Ellen McDonagh (Genomics England Curator)

Mode of inheritance and phenotypes sourced from OMIM.
Created: 8 Jan 2016, 10 a.m.
Created: 8 Jan 2016, 10 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Spinocerebellar ataxia 5, OMIM:600224
  • Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPTBN2 were changed from Spinocerebellar ataxia 5 (AD); Spinocerebellar ataxia, autosomal recessive 14 (AR) to Spinocerebellar ataxia 5, OMIM:600224; Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

SPTBN2 was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene SPTBN2 were set to Spinocerebellar ataxia 5 (AD); Spinocerebellar ataxia, autosomal recessive 14 (AR)

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

SPTBN2 was added to Cerebellar hypoplasiapanel. Sources: Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SPTBN2 was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SPTBN2 was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing