Research panel - Severe Paediatric Disorders
Gene: KLF1

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Biallelic KLF1 variants have been reported in cases of severe neonatal anemia (PMID: 24443441; 25724378; 27282573; 28361594; 28369821). Therefore, the MOI of this gene should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal on this panel.
Created: 2 Sep 2024, 4:46 p.m. | Last Modified: 2 Sep 2024, 4:46 p.m.

Panel Version: 1.191

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 2 Sep 2024, 4:46 p.m.
Last Modified: 2 Sep 2024, 4:46 p.m.
Panel version: 1.191

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Biallelic variants are associated with severe anemia. For the paediatric panel I think the inheritance for this gene should be amended to biallelic only
Created: 21 May 2024, 11:53 a.m. | Last Modified: 21 May 2024, 11:53 a.m.

Panel Version: 1.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 May 2024, 11:53 a.m.
Last Modified: 21 May 2024, 11:53 a.m.
Panel version: 1.184

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KLF1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Blood group--Lutheran inhibitor, 111150 (3) | Dyserythropoietic anemia, congenital, type IV, 613673 (3) ; Mode of inheritance: ND | Autosomal dominant | ND
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Blood group--Lutheran inhibitor, 111150
Dyserythropoietic anemia, congenital, type IV, 613673

OMIM

600599

Clinvar variants

Variants in KLF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Sep 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Sep 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KLF1 were set to 30847515

21 Feb 2020, Gel status: 3