Familial cerebral small vessel disease
Gene: HTRA1EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: As both CARASIL syndrome 600142 (AR) and Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 (AD) are relevant to this panel, "Both" is the correct moiCreated: 6 Feb 2018, 10:45 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 4 Jul 2016, 9:56 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 9:56 a.m.
Rhea Tan (University of Cambridge)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is caused by homozygous mutations in the HTRA1 gene. It was previously only described in consanguineous families in East Asia and one family in Europe.
Loss-of-function mutations in HTRA1 have been reported to cause CARASIL.
A heterozygous mutation in HTRA1 was recently shown to segregate with disease in a European family with early-onset cerebral small vessel disease. Heterozygous mutations were also found in 10 other unrelated cases in the same population.Created: 22 Jun 2016, 3:59 p.m.
Phenotypes
Cerebral small vessel disease; strokes, dementia; cognitive impairment; psychiatric disturbance; alopecia; degenerative disc disease
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Cerebral small vessel disease
- strokes, dementia
- cognitive impairment
- psychiatric disturbance
- alopecia
- degenerative disc disease
- CARASIL syndrome 600142 AR
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
- OMIM
- 602194
- Clinvar variants
- Variants in HTRA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Retinal disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- Familial cerebral small vessel disease
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HTRA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HTRA1 were set to Cerebral small vessel disease; strokes, dementia; cognitive impairment; psychiatric disturbance; alopecia; degenerative disc disease; CARASIL syndrome 600142 AR; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Upload gene information
Sarah Leigh (Genomics England Curator)HTRA1 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set publications
Sarah Leigh (Genomics England Curator)Publications for HTRA1 were set to 21215656; 19299137; 11889251; 26138950; 21115960; 26063658
Created
Rhea Tan (University of Cambridge)HTRA1 was created by rheatan
Added New Source
Rhea Tan (University of Cambridge)HTRA1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature