Cerebral vascular malformations
Gene: FLVCR2
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
Comment on list classification: Cerebral vasculopathy is part of this complex phenotype.Created: 19 Dec 2016, 2:21 p.m.
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.
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
Phenotypes for gene: FLVCR2 were changed from Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790
Source Expert Review Amber was added to FLVCR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to FLVCR2.
Source NHS GMS was added to FLVCR2.
Publications for FLVCR2 were set to 20206334
Mode of inheritance for FLVCR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FLVCR2 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
FLVCR2 was added to Cerebrovascular disorderspanel. Sources: UKGTN
FLVCR2 was created by ellenmcdonagh