EPO:Ensemblv90

erythropoietin
OMIM: 133170, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EPO in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrocytosis, familial, 5, MIM# 617907
  • Diamond-Blackfan anaemia-like, MIM# 617911

Green EPO in Red cell disorders


Level 2: Haematological disorders
Version 1.39

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 5, MIM# 617907
  • Diamond-Blackfan anaemia-like, MIM# 617911

Green EPO in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Erythrocytosis, familial, 5, MIM# 617907
  • Diamond-Blackfan anaemia-like, MIM# 617911