Inherited white matter disorders

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 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

6 Oct 2016, Gel status: 4

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.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FLVCR2 was added to Inherited white matter disorderspanel. Source: UKGTN

5 Apr 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FLVCR2 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLVCR2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLVCR2 was created by ellenmcdonagh