Cerebral vascular malformations

Gene: HTRA1

Red List (low evidence)

HTRA1 (HtrA serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Associated with small vessel disease rather than cerebral vascular malformations
Created: 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
  • 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

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 HTRA1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HTRA1.

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)

HTRA1 was added to Cerebrovascular disorderspanel. Source: Radboud University Medical Center, Nijmegen

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HTRA1 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HTRA1 was created by ellenmcdonagh