Cytopenia - NOT Fanconi anaemia
Gene: KLF1The 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
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
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 submittedCreated: 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): 21055716Created: 6 Feb 2019, 3:13 p.m.
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
Tag Q1_22_MOI was removed from gene: KLF1.
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
Tag Q1_22_MOI tag was added to gene: KLF1.
Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF1 were set to 21055716
Phenotypes for gene: KLF1 were changed from Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Gene: klf1 has been classified as Green List (High Evidence).
Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
Source North West GLH was added to KLF1.
Source NHS GMS was added to KLF1.
Source Expert Review Green was added to KLF1. Mode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1 Publications for gene KLF1 were changed from to 21055716 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: KLF1 was added gene: KLF1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KLF1 was set to