Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: KLF1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Established gene-disease association.

Congenital onset.

Treatment is supportive.
Created: 24 Nov 2022, 1:43 a.m. | Last Modified: 24 Nov 2022, 1:43 a.m.
Panel Version: 0.1084

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyserythropoietic anaemia, congenital, type IV, MIM# 613673

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klf1 has been classified as Red List (Low Evidence).

24 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673

24 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klf1 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLF1 was added gene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881 Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673