SPTB

spectrin beta, erythrocytic
OMIM: 182870, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SPTB in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spherocytosis, type 2 MIM# 616649
  • Elliptocytosis-3 MIM# 617948
  • Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948

Green SPTB in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spherocytosis

Green SPTB in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Spherocytosis, type 2 MIM# 616649
  • Elliptocytosis-3 MIM# 617948
  • Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948

Red SPTB in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948
Tags
  • for review