Hydrocephalus_Ventriculomegaly
Gene: FLVCR2

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

1 review

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, 3:22 a.m. | Last Modified: 23 Dec 2021, 3:22 a.m.

Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 23 Dec 2021, 3:22 a.m.
Last Modified: 23 Dec 2021, 3:22 a.m.
Panel version: 0.107

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790

OMIM

610865

Clinvar variants

Variants in FLVCR2

Penetrance

None

Publications

Panels with this gene