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Cytopenias and congenital anaemias

Gene: SPTB

Green List (high evidence)

SPTB (spectrin beta, erythrocytic)
EnsemblGeneIds (GRCh38): ENSG00000070182
EnsemblGeneIds (GRCh37): ENSG00000070182
OMIM: 182870, Gene2Phenotype
SPTB is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to evidence in the literature
Created: 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, 9163587
Created: 23 Feb 2017, 3:35 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

11 Mar 2017, Gel status: 4

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.

24 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

23 Feb 2017, Gel status: 4

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

23 Feb 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SPTB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

23 Feb 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPTB were set to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587

23 Feb 2017, Gel status: 2

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

23 Feb 2017, Gel status: 2

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

23 Feb 2017, Gel status: 2

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

23 Feb 2017, Gel status: 2

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

23 Feb 2017, Gel status: 2

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

23 Feb 2017, Gel status: 2

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

23 Feb 2017, Gel status: 0

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

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SPTB was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SPTB was created by LouiseD