KLF1

Kruppel like factor 1
OMIM: 600599
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673
R-numbers: R21, R412
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type IV, OMIM:613673, Hydrops Fetalis
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type IV, OMIM:613673