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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 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30712878: Compound heterozygous variants identified in FLVCR2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Created: 18 Apr 2019, 3:57 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Created: 11 Dec 2018, 9:04 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
OMIM
610865
Clinvar variants
Variants in FLVCR2
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FLVCR2 was added gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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