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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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Updated MOI from 'Monoallelic' to 'BOTH AD+AR' (after agreement from Rhiannon Mellis, GOSH), to match the MOI on the Fetal hydrops v.1.16 panel. The expanded MOI is based on compound heterozygous cases in PMID:25724378 and PMID:28361594.
Created: 28 Nov 2019, 12:43 p.m. | Last Modified: 28 Nov 2019, 12:43 p.m.
Panel Version: 0.359
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hydrops.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Dominant negative.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
  • Hydrops Fetalis
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis

28 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: KLF1 were set to

28 Nov 2019, Gel status: 3

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: KLF1 was changed from to Other

28 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KLF1 was added gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV