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  3. FLVCR2
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Hydrops fetalis

Gene: FLVCR2

Red List (low evidence)
FLVCR2 (feline leukemia virus subgroup C cellular receptor family member 2)
EnsemblGeneIds (GRCh38): ENSG00000119686
EnsemblGeneIds (GRCh37): ENSG00000119686
OMIM: 610865, Gene2Phenotype
FLVCR2 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case reported with cystic hygroma as part of big prenatal series. More typical presentation is with hydrocephalus, fetal akinesia, polyhydramnios.
Created: 24 Aug 2020, 11:46 a.m. | Last Modified: 24 Aug 2020, 11:47 a.m.
Panel Version: 0.186

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic hygroma; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790

Publications

Created: 24 Aug 2020, 11:46 a.m.
Last Modified: 24 Aug 2020, 11:47 a.m.
Panel version: 0.186

John Christodoulou (Murdoch Children's Research Institute)

Red List (low evidence)

In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study.

DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures.
Sources: Other
Created: 24 Aug 2020, 11:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic hygroma; hydrops; hydranencephal; arthrogryposis

Publications

Created: 24 Aug 2020, 11:30 a.m.

Panel version: 0.186

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cystic hygroma
  • hydrops
  • hydranencephaly
  • arthrogryposis
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
OMIM
610865
Clinvar variants
Variants in FLVCR2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

24 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flvcr2 has been classified as Red List (Low Evidence).

24 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLVCR2 were changed from Cystic hygroma; hydrops; hydranencephal; arthrogryposis to Cystic hygroma; hydrops; hydranencephaly; arthrogryposis; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790

24 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLVCR2 were set to PMID: 30712878

24 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flvcr2 has been classified as Red List (Low Evidence).

24 Aug 2020, Gel status: 0

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

John Christodoulou (Murdoch Children's Research Institute)

gene: FLVCR2 was added gene: FLVCR2 was added to Hydrops fetalis. Sources: Other Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to PMID: 30712878 Phenotypes for gene: FLVCR2 were set to Cystic hygroma; hydrops; hydranencephal; arthrogryposis Penetrance for gene: FLVCR2 were set to unknown Review for gene: FLVCR2 was set to RED