Cytopenias and congenital anaemias
Gene: SPTBEnsemblGeneIds (GRCh38): ENSG00000070182
EnsemblGeneIds (GRCh37): ENSG00000070182
OMIM: 182870, Gene2Phenotype
SPTB is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status to Green due to evidence in the literatureCreated: 23 Feb 2017, 3:41 p.m.
Comment on publications: Evidence for disorder in 3 or more unrelated families : Spherocytosis type 2: PMID: 8102379, 27906107,11703334,19538529. Elliptocytosis 3: 2056132, 1391962, 9163587Created: 23 Feb 2017, 3:35 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- RBC membrane abnormality
- Elliptocytosis
- Spherocytosis,616649
- Anemia, neonatal hemolytic, fatal and near-fatal
- OMIM
- 182870
- Clinvar variants
- Variants in SPTB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTB were set to RBC membrane abnormality; Elliptocytosis; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for SPTB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPTB were set to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Model of inheritance for gene SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene SPTB were set to RBC membrane abnormality;Elliptocytosis;Spherocytosis;Anemia, neonatal hemolytic, fatal and near-fatal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene SPTB were set to RBC membrane abnormality;Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown);Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal);Anemia, neonatal hemolytic, fatal and near-fatal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene SPTB were set to RBC membrane abnormality;Elliptocytosis;Spherocytosis;Anemia, neonatal hemolytic, fatal and near-fatal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTB were set to RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal); Anemia, neonatal hemolytic, fatal and near-fatal
Upload gene information
Louise Daugherty (Genomics England Curator)SPTB was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTB were set to RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal;Anemia, neonatal hemolytic, fatal and near-fatal
Added New Source
Louise Daugherty (Genomics England Curator)SPTB was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)SPTB was created by LouiseD