Cerebral vascular malformations
Gene: VLDLREnsemblGeneIds (GRCh38): ENSG00000147852
EnsemblGeneIds (GRCh37): ENSG00000147852
OMIM: 192977, Gene2Phenotype
VLDLR is in 12 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 12:03 p.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 12:02 p.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 192977
- Clinvar variants
- Variants in VLDLR
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to VLDLR.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to VLDLR.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)VLDLR was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)VLDLR was added to Cerebrovascular disorderspanel. Sources: UKGTN