Cerebral vascular malformations
Gene: LARGE1
LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 17 panels
3 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:48 a.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:47 a.m.
Louise Daugherty (Genomics England Curator)
Ellen McDonagh (Genomics England Curator)
Added new gene tag.Created: 9 Dec 2016, 1:42 p.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 603590
- Clinvar variants
- Variants in LARGE1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to LARGE1.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LARGE1.
5 Nov 2017, Gel status: 1
Changed Gene Name
GEL ()LARGE was changed to LARGE1
5 Nov 2017, Gel status: 1
Removed Tag
GEL ()new-gene-name was removed from LARGE. Panel: Cerebrovascular disorders
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
9 Dec 2016, Gel status: 1
Changed Gene Name
Ellen McDonagh (Genomics England Curator)LARGE1* was changed to LARGE
9 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LARGE1* was added to Cerebrovascular disorderspanel. Sources: UKGTN
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LARGE1* was created by ellenmcdonagh