EPB42

erythrocyte membrane protein band 4.2
OMIM: 177070, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EPB42 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106

review 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, type 5, 612690
  • Hereditary spherocytosis type 5
  • Minkowski-Chauffard disease
  • Spherocytosis, Recessive
  • EPB42-related hereditary spherocytosis

Green EPB42 in Rare anaemia


Version 1.41
Latest signed off version: v1.2 (3 Mar 2020)

review 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, type 5, 612690
  • EPB42-related hereditary spherocytosis
  • 612690 Spherocytosis, type 5
  • Spherocytosis, Recessive
  • Elliptocytosis
  • Minkowski-Chauffard disease
  • RBC membrane abnormality
  • Hereditary spherocytosis type 5
  • 612690 Hereditary spherocytosis type 5

Green EPB42 in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spherocytosis, type 5, 612690