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  3. KLF1
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Hydrops fetalis

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

2 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, 8:06 a.m. | Last Modified: 5 Oct 2024, 8:06 a.m.
Panel Version: 0.321

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 Oct 2024, 8:06 a.m.
Last Modified: 5 Oct 2024, 8:06 a.m.
Panel version: 0.321

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: 0.49

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital Dyserythropoietic Anemia Type IV, MIM#613673
  • Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
None
Publications
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 Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia to Congenital Dyserythropoietic Anemia 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 29300242; 25724378; 28265383

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

30 Dec 2019, 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Dec 2019, 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).

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLF1 were set to 29300242; 25724378; 28265383

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLF1 were changed from to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLF1 were set to

30 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLF1 was added gene: KLF1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLF1 was set to Unknown