IBMDx study
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)

Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.
Created: 5 Oct 2024, 11:14 a.m. | Last Modified: 5 Oct 2024, 11:14 a.m.

Panel Version: 0.25

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, 10:19 p.m. | Last Modified: 17 Jun 2021, 10:19 p.m.

Panel Version: 0.277

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

Publications

Created: 17 Jun 2021, 10:19 p.m.
Last Modified: 17 Jun 2021, 10:19 p.m.
Panel version: 0.25

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
IBMDx Study
Victorian Clinical Genetics Services

Phenotypes

Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
MONDO:0013355
Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

OMIM

600599

Clinvar variants

Variants in KLF1

Penetrance

None

Publications

Panels with this gene