Cytopenias and congenital anaemias
Gene: SPTBComment 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.
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for SPTB were set to RBC membrane abnormality; Elliptocytosis; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal
Mode of inheritance for SPTB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for SPTB were set to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587
Model of inheritance for gene SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene SPTB were set to RBC membrane abnormality;Elliptocytosis;Spherocytosis;Anemia, neonatal hemolytic, fatal and near-fatal
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
Phenotypes for gene SPTB were set to RBC membrane abnormality;Elliptocytosis;Spherocytosis;Anemia, neonatal hemolytic, fatal and near-fatal
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
SPTB was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
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
SPTB was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
SPTB was created by LouiseD