1. Panels
  2. Fetal anomalies
  3. KLF1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia. Can present with hydrops.
Created: 5 Oct 2024, 11:12 a.m. | Last Modified: 5 Oct 2024, 11:12 a.m.
Panel Version: 1.276

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

Publications

Created: 5 Oct 2024, 11:12 a.m.
Last Modified: 5 Oct 2024, 11:12 a.m.
Panel version: 1.276

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

hydrops fetalis is the presenting prenatal phenotype
Created: 22 Nov 2021, 12:35 a.m. | Last Modified: 22 Nov 2021, 12:35 a.m.
Panel Version: 0.582

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Blood group--Lutheran inhibitor MIM#111150; Dyserythropoietic anemia, congenital, type IV MIM#613673

Publications

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

Created: 22 Nov 2021, 12:35 a.m.
Last Modified: 22 Nov 2021, 12:35 a.m.
Panel version: 0.582

George McGillivray (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital Dyserythropoietic Anemia Type IV; severe nonspherocytic hemolytic anemia

Publications

Created: 30 Dec 2019, 5:02 a.m.
Last Modified: 30 Dec 2019, 5:02 a.m.
Panel version: Imported from Hydrops fetalis panel version 0.49

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV MIM#613673
  • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV MIM#613673 to Dyserythropoietic anaemia, congenital, type IV MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLF1 were set to 28361594; 25724378

5 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klf1 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis to Dyserythropoietic anaemia, congenital, type IV MIM#613673

22 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLF1 was added gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KLF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KLF1 were set to 28361594; 25724378 Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis Mode of pathogenicity for gene: KLF1 was set to Other