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Prepair 1000+

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

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a (usually) prenatally lethal disorder characterised 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.

At least 5 unrelated families reported.
Created: 13 Mar 2025, 2:43 a.m. | Last Modified: 13 Mar 2025, 2:43 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
OMIM
610865
Clinvar variants
Variants in FLVCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FLVCR2 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 225790 (3)