Cytopenias and congenital anaemias
Gene: KLF1

KLF1 (Kruppel like factor 1)
EnsemblGeneIds (GRCh38): ENSG00000105610
EnsemblGeneIds (GRCh37): ENSG00000105610
OMIM: 600599, Gene2Phenotype
KLF1 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: MOI was updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'. The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.
Created: 1 Mar 2022, noon | Last Modified: 1 Mar 2022, noon

Panel Version: 1.100

Created: 1 Mar 2022, noon
Last Modified: 1 Mar 2022, noon
Panel version: 1.100

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital dyserythropoietic anemia (CDA)

Publications

21055716

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Dyserythropoietic anemia, congenital, type IV, OMIM:613673

OMIM

600599

Clinvar variants

Variants in KLF1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

1 Mar 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KLF1 were set to 21055716

1 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4