EPB42

erythrocyte membrane protein band 4.2
OMIM: 177070, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EPB42 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spherocytosis, type 5, MIM# 612690

Red EPB42 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Green EPB42 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review 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 5, MIM# 612690

Red EPB42 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

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