Cytopenia - NOT Fanconi anaemia

Gene: KLF1

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 8:15 a.m. | Last Modified: 1 Feb 2023, 8:15 a.m.

Panel Version: 2.3

Comment on mode of inheritance: MOI should be 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, 11:58 a.m. | Last Modified: 1 Mar 2022, 11:58 a.m.

Panel Version: 1.55

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.

Created: 18 Feb 2019, 2:55 p.m.

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

Phenotypes
Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.

Created: 22 Jul 2019, 1:30 p.m. | Last Modified: 22 Jul 2019, 1:30 p.m.

Panel Version: 0.85

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted

Created: 18 Feb 2019, 2:57 p.m.

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): 21055716

Created: 6 Feb 2019, 3:13 p.m.

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 6 Feb 2019, 3:12 p.m.

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