Cerebral vascular malformations
Gene: FLVCR2
Cerebral proliferative glomeruloid vasculopathy (PGV), a type of cerebral vascular malformation, is a hallmark of the condition. In a large review of cases from 2020, only 6/72 (8%) survived beyond birth and interfamilial variability has been reported.Created: 1 Dec 2024, 10:06 p.m. | Last Modified: 1 Dec 2024, 10:06 p.m.
Panel Version: 0.108
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proliferative vasculopathy and hydranencephaly/hydrocephaly MONDO:0009168
Publications
Variants in this GENE are reported as part of current diagnostic practice
Fowler syndrome (also known as Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome) is a prenatally lethal disorder where affected individuals have hydranencephaly and distinctive glomerular vasculopathy in CNS along with other ischemic lesions.
Reported individuals don't have a CV-AVM phenotype but more of a CNS vasulopathy.Created: 19 Nov 2024, 12:25 a.m. | Last Modified: 19 Nov 2024, 12:25 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fowler syndrome MONDO:0009168
Publications
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, 3:21 a.m. | Last Modified: 23 Dec 2021, 3:21 a.m.
Panel Version: 0.10349
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Publications
Gene: flvcr2 has been classified as Green List (High Evidence).
gene: FLVCR2 was added gene: FLVCR2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to 20206334 Phenotypes for gene: FLVCR2 were set to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome