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  3. KLF1
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Non-Fanconi anaemia

Gene: KLF1

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

3 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 4th May 2017.
Created: 4 May 2017, 11:14 a.m.
Comment on list classification: Kept rating as Green: Green expert review, confirmed DD-G2P gene for Dyserythropoietic anemia (MIM:613673). 2 unrelated anemia patients with KLF1 E325K variant recorded on OMIM plus additional cases from literature (including PMID:28265383).
Created: 4 May 2017, 10:02 a.m.
Comment on mode of inheritance: Monoallelic MOI confirmed by OMIM and G2P.
Created: 4 May 2017, 9:59 a.m.
Created: 4 May 2017, 9:59 a.m.

Panel version: 0.266

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital dyserythropoietic anaemia type IV

Created: 26 Jan 2016, 1:41 p.m.

Panel version: 0.228

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
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

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

4 May 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for KLF1 were set to 28265383

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

4 May 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KLF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KLF1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen