Cerebral vascular malformations
Gene: OPHN1
OPHN1 (oligophrenin 1)
EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 11 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:57 a.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:57 a.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 300127
- Clinvar variants
- Variants in OPHN1
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Cerebral vascular malformations
- Ataxia and cerebellar anomalies - narrow panel
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 OPHN1.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OPHN1.
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
Added New Source
Ellen McDonagh (Genomics England Curator)OPHN1 was added to Cerebrovascular disorderspanel. Sources: UKGTN
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)OPHN1 was created by ellenmcdonagh