×
Entrez Id:
477
Gene Symbol:
ATP1A2
ATP1A2
Hydrops Fetalis
0.410
Biomarker
GENOMICS_ENGLAND
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis , microcephaly, arthrogryposis and extensive cortical malformations.
30690204
2020
×
Entrez Id:
23057
Gene Symbol:
NMNAT2
NMNAT2
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
31136762
2019
×
Entrez Id:
23057
Gene Symbol:
NMNAT2
NMNAT2
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
31136762
2019
×
Entrez Id:
23299
Gene Symbol:
BICD2
BICD2
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
30054298
2018
×
Entrez Id:
10661
Gene Symbol:
KLF1
KLF1
Hydrops Fetalis
0.420
Biomarker
GENOMICS_ENGLAND
Here, we 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.
28361594
2016
×
Entrez Id:
50943
Gene Symbol:
FOXP3
FOXP3
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.
26395338
2016
×
Entrez Id:
2990
Gene Symbol:
GUSB
GUSB
Hydrops Fetalis
0.410
Biomarker
GENOMICS_ENGLAND
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases.
24284886
2014
×
Entrez Id:
427
Gene Symbol:
ASAH1
ASAH1
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
24164096
2014
×
Entrez Id:
23057
Gene Symbol:
NMNAT2
NMNAT2
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.
23082226
2012
×
Entrez Id:
2324
Gene Symbol:
FLT4
FLT4
Hydrops Fetalis
0.320
Biomarker
GENOMICS_ENGLAND
Because VEGFR3 mutation can cause generalized lymphatic dysfunction and can thus result in hydrops fetalis , VEGFR3 screening should be added to the investigation of cases of hydrops fetalis of an unknown etiology.
16965327
2006
×
Entrez Id:
147372
Gene Symbol:
CCBE1
CCBE1
Hydrops Fetalis
0.600
Biomarker
GENOMICS_ENGLAND
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.
12794699
2003
×
Entrez Id:
3988
Gene Symbol:
LIPA
LIPA
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
Isolated fetal ascites caused by Wolman disease.
12666227
2003
×
Entrez Id:
4758
Gene Symbol:
NEU1
NEU1
Hydrops Fetalis
0.400
Biomarker
GENOMICS_ENGLAND
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
11702224
2001
×
Entrez Id:
2303
Gene Symbol:
FOXC2
FOXC2
Hydrops Fetalis
0.320
Biomarker
GENOMICS_ENGLAND
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
11078474
2000
×
Entrez Id:
26503
Gene Symbol:
SLC17A5
SLC17A5
Hydrops Fetalis
0.400
Biomarker
GENOMICS_ENGLAND
Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.
10546100
1999
×
Entrez Id:
3040
Gene Symbol:
HBA2
HBA2
Hydrops Fetalis
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
3039
Gene Symbol:
HBA1
HBA1
Hydrops Fetalis
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
6888
Gene Symbol:
TALDO1
TALDO1
Hydrops Fetalis
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
8879
Gene Symbol:
SGPL1
SGPL1
Hydrops Fetalis
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
6655
Gene Symbol:
SOS2
SOS2
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
Hydrops Fetalis
0.300
Biomarker
GENOMICS_ENGLAND