Fetal hydrops
Gene: KLF1Comment 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
Phenotypes for gene: KLF1 were changed from hydrops fetalis due to congenital dyserythropoietic anemia (CDA); hydrops fetalis-associated anemia to Dyserythropoietic anemia, congenital, type IV, OMIM:613673; Hydrops Fetalis
This gene has been classified as Green List (High Evidence).
Publications for KLF1 were set to 28361594; 21055716; 25724378; 26903544
Publications for KLF1 were set to 28361594; 21055716; 25724378
Phenotypes for KLF1 were set to hydrops fetalis due to congenital dyserythropoietic anemia (CDA); hydrops fetalis-associated anemia
Mode of inheritance for KLF1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KLF1 was added to Fetal hydropspanel. Sources: Literature
KLF1 was created by rfoulger