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Fetal anomalies

Gene: FLVCR2

Green List (high 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)

Green List (high evidence)

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a (usually) prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation.

At least 5 unrelated families reported.
Created: 23 Dec 2021, 3:19 a.m. | Last Modified: 23 Dec 2021, 3:19 a.m.
Panel Version: 0.1608
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
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: 0.1608

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: Imported from Hydrops fetalis panel version 0.186

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
OMIM
610865
Clinvar variants
Variants in FLVCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flvcr2 has been classified as Green List (High Evidence).

23 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLVCR2 were changed from PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790

23 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLVCR2 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLVCR2 was added gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME