1. Panels
  2. DDG2P
  3. SPTBN2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369).

The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 7 Oct 2023, 8:16 a.m.
Panel Version: 3.59

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
SCA14; Infantile ataxia with oculomotor and pyramidal signs

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 7 Oct 2023, 8:16 a.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
Created: 22 Apr 2019, 7:40 p.m.
Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for 'SCA14'. Rated probable for 'Infantile ataxia with oculomotor and pyramidal signs'.
Created: 22 Apr 2019, 7:39 p.m.
Two new gene:disorder associations added to DDG2P in March 2019: First new gene:disorder association: SCA14. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Second new gene:disorder association: Infantile ataxia with oculomotor and pyramidal signs. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: dominant negative. DDG2P mode of inheritance: monoallelic.
Created: 22 Apr 2019, 7:34 p.m.
Created: 22 Apr 2019, 7:34 p.m.

Panel version: 1.39

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SCA14
  • Infantile ataxia with oculomotor and pyramidal signs
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: SPTBN2.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTBN2 were updated from 25981959; 22914369; 29795474 to 29795474; 22914369; 25981959

22 Apr 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2019, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: SPTBN2.

22 Apr 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SPTBN2 was added gene: SPTBN2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 25981959; 22914369; 29795474 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs