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Fetal anomalies

Gene: SPTBN2

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPTBN2 gene rating from Green to Red.
Created: 29 Apr 2019, 2:52 p.m.
Comment on phenotypes: Added more informative phenotype description from OMIM (Spinocerebellar ataxia, autosomal recessive 14, 615386) as Gene2Phenotype names the disorder as SCA14.
Created: 22 Apr 2019, 8:11 p.m.
Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: 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, 8:11 p.m.
Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for biallelic SCA14. Rated probable for Infantile ataxia with oculomotor and pyramidal signs.
Created: 22 Apr 2019, 8:10 p.m.
New gene:disorder association added to DDG2P in March 2019: SCA14. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Second new gene:disorder association added to DDG2P in March 2019: Infantile ataxia with oculomotor and pyramidal signs. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: dominant negative. DDG2P mode of inheritance: monoallelic. Added to Fetal anomalies panel awaiting clinical review.
Created: 22 Apr 2019, 8:06 p.m.
Created: 22 Apr 2019, 8:06 p.m.

Panel version: 0.225

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • SCA14
  • Infantile ataxia with oculomotor and pyramidal signs
  • Spinocerebellar ataxia, autosomal recessive 14, 615386
Tags
watchlist
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SPTBN2. Rating Changed from Green List (high evidence) to Red List (low evidence)

22 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SPTBN2 were changed from SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386

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 Fetal anomalies. 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 29196973; 28636205 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386