Fetal hydrops

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)

Comment on list classification: Updated rating from Red to Green: Agreed by Arianna Tucci, and 3 unrelated cases of KLF1 variants and hydrops fetalis-associated anemia.
Created: 11 May 2017, 9:03 a.m.
Magor et al.,2015 (25724378) describe a case of a boy with unexpected severe neonatal anemia with hydrops fetalis as a result of compound heterozygosity for null alleles of KLF1: W30X and R319EfsX34.
Created: 4 May 2017, 10:24 a.m.
Comment on mode of inheritance: PMID:28361594 report a compound het mode of inheritance whereas PMID:21055716 report a heterozygous mode of inheritance. Therefore recorded MOI as both biallelic and monoallelic,
Created: 4 May 2017, 10:19 a.m.
Lee et al., 2016 (PMID:28361594) report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. The fetus was a compound heterozygote for two KLF1 mutations (p.Gly176Argfs*179 inherited from the mother and Pro338Thr inherited from the father).
Created: 4 May 2017, 10:15 a.m.
Araud et al, 2010 (PMID:21055716) report a CDA patient (patient ME) with hydrops fetalis-associated anemia detected at 23 weeks of gestation. The patient had 2 heterozygous mutations in KLF1: (S102P and E325K). The S102P mutation was not likely pathogenic, and the E325K mutation was likely to be responsible for the phenotype.
Created: 4 May 2017, 10:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrops fetalis due to congenital dyserythropoietic anemia (CDA)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hydrops fetalis due to congenital dyserythropoietic anemia (CDA)
  • hydrops fetalis-associated anemia
OMIM
600599
Clinvar variants
Variants in KLF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for KLF1 were set to 28361594; 21055716; 25724378; 26903544

4 May 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for KLF1 were set to 28361594; 21055716; 25724378

4 May 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for KLF1 were set to hydrops fetalis due to congenital dyserythropoietic anemia (CDA); hydrops fetalis-associated anemia

4 May 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KLF1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KLF1 was added to Fetal hydropspanel. Sources: Literature

4 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KLF1 was created by rfoulger