SPTB

spectrin beta, erythrocytic
OMIM: 182870, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SPTB in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
  • Spherocytosis,616649
  • Anemia, neonatal hemolytic, fatal and near-fatal
Green SPTB in Rare anaemia


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Spherocytosis,616649
  • Elliptocytosis
  • Anemia, neonatal hemolytic, fatal and near-fatal
  • RBC membrane abnormality
  • 617948 Elliptocytosis-3
  • 616649 Spherocytosis, type 2
  • 616649 Anemia, neonatal hemolytic, fatal and near-fatal
Green SPTB in Severe Paediatric Disorders


Version 1.182

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spherocytosis, type 2, 616649
  • Anemia, neonatal hemolytic, fatal or near-fatal, 617948
  • Elliptocytosis-3, 617948