Cerebral vascular malformations
Gene: FLVCR2EnsemblGeneIds (GRCh38): ENSG00000119686
EnsemblGeneIds (GRCh37): ENSG00000119686
OMIM: 610865, Gene2Phenotype
FLVCR2 is in 7 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain): amber in view of reported prenatal lethality, with surviving individuals not having a clear phenotype that is of relevance to this panelCreated: 29 Nov 2019, 7:04 p.m. | Last Modified: 29 Nov 2019, 7:04 p.m.
Panel Version: 1.67
Ellen Thomas (Genomics England Curator)
Comment on list classification: Cerebral vasculopathy is part of this complex phenotype.Created: 19 Dec 2016, 2:21 p.m.
Ellen McDonagh (Genomics England Curator)
More than 3 unrelated cases/family reports with different variants for Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome. It is a green gene in the Inherited white matter disorders Version 1.0 and Intellectual disability Version 1.22 gene panels.Created: 14 Dec 2016, 4:03 p.m.
Alice Gardham (Genomics England)
Proliferative vasculopathy seen.Created: 12 Dec 2016, 3:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790
- OMIM
- 610865
- Clinvar variants
- Variants in FLVCR2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FLVCR2 were changed from Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to FLVCR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to FLVCR2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FLVCR2.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FLVCR2 were set to 20206334
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FLVCR2 was changed to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
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).
Upload gene information
Alice Gardham (Genomics England)FLVCR2 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FLVCR2 was added to Cerebrovascular disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)FLVCR2 was created by ellenmcdonagh