Cerebral vascular malformations
Gene: HTRA1EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
1 review
Alice Gardham (Genomics England)
Associated with small vessel disease rather than cerebral vascular malformationsCreated: 12 Dec 2016, 3:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Moyamoya disease
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
- OMIM
- 602194
- Clinvar variants
- Variants in HTRA1
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Inherited white matter disorders
- Familial cerebral small vessel disease
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to HTRA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HTRA1.
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).
Added New Source
Ellen McDonagh (Genomics England Curator)HTRA1 was added to Cerebrovascular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HTRA1 was added to Cerebrovascular disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)HTRA1 was created by ellenmcdonagh