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Additional findings_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital dyserythropoietic anaemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and haemolysis resulting in anaemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal haemoglobin.

Multiple affected individuals reported.
Created: 17 Jun 2021, 10:22 p.m. | Last Modified: 17 Jun 2021, 10:22 p.m.
Panel Version: 0.233

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
  • MONDO:0013355
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 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).

17 Jun 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 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355

17 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLF1 were set to

17 Jun 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).

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLF1 was added gene: KLF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KLF1 were set to Anemia, dyserythropoietic congenital, type IV