Inherited white matter disorders
Gene: FLVCR2EnsemblGeneIds (GRCh38): ENSG00000119686
EnsemblGeneIds (GRCh37): ENSG00000119686
OMIM: 610865, Gene2Phenotype
FLVCR2 is in 7 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, more than 3 cases in OMIM and found in 3/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome is a white matter disorder (it does include calcifications in white matter, basal ganglia, brainstem, cerebellum, and spinal cord according to the OMIM clinical synopsis).Created: 25 Aug 2016, 2:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
- OMIM
- 610865
- Clinvar variants
- Variants in FLVCR2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR2 was added to Inherited white matter disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR2 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)FLVCR2 was created by ellenmcdonagh