Hereditary ataxia

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Please see comments from Alisdair Mcneill. I have discussed this with the Genomics England Clinical team, and the decision was made to keep this gene as Green with 'both' as the mode of inheritance as there are sufficient cases reported for dominant inheritance, however interpretation of a single missense variant in this gene requires caution and verification of segregation.
Created: 13 Aug 2018, 4:15 p.m.

alisdair mcneill (Sheffield childrens hospital)

Red List (low evidence)

a note of caution; I have seen 2 families in clinical practice with dominant inheritance of ataxia - proband found to have an SPTBN2 variant and called SCA5, subsequently these missense variants did not segregate. I am a now uncertain if this is a genuine dominant ataxia gene or not and might suggest some caution in reporting...
Created: 15 Apr 2018, 9:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM and expert review
Created: 2 Feb 2016, 10:05 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Loads of evidence in lit. Mode of inheritance: AD/AR (AD may be Dominant Negative)
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spinocerebellar ataxia 5
  • Spinocerebellar ataxia, autosomal recessive 14
  • Spinocerebellar Ataxia, Dominant
  • SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPTBN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SPTBN2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPTBN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SPTBN2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPTBN2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN