Inherited white matter disorders
Gene: FLVCR2Comment 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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
This gene has been classified as Amber List (Moderate Evidence).
FLVCR2 was added to Inherited white matter disorderspanel. Source: UKGTN
FLVCR2 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
FLVCR2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
FLVCR2 was created by ellenmcdonagh