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Stroke

Gene: HTRA1

Green List (high evidence)
HTRA1 (HtrA serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 12 Mar 2021, 9:35 a.m. | Last Modified: 12 Mar 2021, 9:35 a.m.
Panel Version: 0.86

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CARASIL syndrome, MIM# 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779

Publications

Created: 12 Mar 2021, 9:35 a.m.
Last Modified: 12 Mar 2021, 9:35 a.m.
Panel version: 0.86

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • CARASIL syndrome, MIM# 600142
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779
OMIM
602194
Clinvar variants
Variants in HTRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: htra1 has been classified as Green List (High Evidence).

12 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HTRA1 were changed from Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 to CARASIL syndrome, MIM# 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779

12 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HTRA1 were set to

22 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HTRA1 was added gene: HTRA1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HTRA1 were set to Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779