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Cytopenias and congenital anaemias

Gene: KLF1

Green List (high evidence)

KLF1 (Kruppel like factor 1)
EnsemblGeneIds (GRCh38): ENSG00000105610
EnsemblGeneIds (GRCh37): ENSG00000105610
OMIM: 600599, Gene2Phenotype
KLF1 is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Congenital dyserythropoietic anemia (CDA)

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type IV, 613673
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KLF1 were set to Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673

28 Feb 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KLF1 were set to Congenital Dyserythropoietic Anemia; Blood group Lutheran inhibitor,111150;Dyserythropoietic anemia, congenital, type IV,613673

28 Feb 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KLF1 were set to 21055716

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

KLF1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

KLF1 was created by LouiseD