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Cerebral vascular malformations

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 1 Dec 2024, 10:06 p.m.
Last Modified: 1 Dec 2024, 10:06 p.m.
Panel version: 0.108

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

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

Created: 19 Nov 2024, 12:25 a.m.
Last Modified: 19 Nov 2024, 12:25 a.m.
Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
OMIM
610865
Clinvar variants
Variants in FLVCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 May 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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