EPB41

erythrocyte membrane protein band 4.1
OMIM: 130500, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EPB41 in Cytopenias and congenital anaemias

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
  • Elliptocytosis-1,611804
  • Hereditary elliptocytosis

Green EPB41 in Rare anaemia


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 611804 Elliptocytosis-1
  • 611804 Hereditary elliptocytosis
  • Elliptocytosis
  • RBC membrane abnormality
  • Hereditary elliptocytosis
  • Elliptocytosis-1,611804

Green EPB41 in Severe Paediatric Disorders


Version 1.127

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Elliptocytosis-1, 611804