EPB42

erythrocyte membrane protein band 4.2
OMIM: 177070, Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Green EPB42 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.124	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 Level 2: Haematology Version 3.23 Latest signed off version: v3.0 (22 Mar 2023)	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

Panel

Reviews

Mode of inheritance

Details

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.124

review

BIALLELIC, autosomal or pseudoautosomal

Level 2: Haematology
Version 3.23
Latest signed off version: v3.0 (22 Mar 2023)

review

BIALLELIC, autosomal or pseudoautosomal