Additional findings_Paediatric
Gene: KLF1

KLF1 (Kruppel like factor 1)
EnsemblGeneIds (GRCh38): ENSG00000105610
EnsemblGeneIds (GRCh37): ENSG00000105610
OMIM: 600599, Gene2Phenotype
KLF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital dyserythropoietic anaemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and haemolysis resulting in anaemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal haemoglobin.

Multiple affected individuals reported.
Created: 17 Jun 2021, 10:22 p.m. | Last Modified: 17 Jun 2021, 10:22 p.m.

Panel Version: 0.233

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355

Publications

Created: 17 Jun 2021, 10:22 p.m.
Last Modified: 17 Jun 2021, 10:22 p.m.
Panel version: 0.233

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
BabySeq Category C gene

Phenotypes

Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
MONDO:0013355

OMIM

600599

Clinvar variants

Variants in KLF1

Penetrance

None

Publications

Panels with this gene