Genes in panel

Neurodegenerative disorders - adult onset

Gene: HTRA1

Green List (high evidence)

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset in teens to late twenties (range 14 to 44 years)
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Dementia
  • CARASIL syndrome 600142
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
OMIM
602194
Clinvar variants
Variants in HTRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Jul 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HTRA1 were changed from to 19387015; 24500651

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to HTRA1.

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HTRA1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to HTRA1.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: HTRA1 was added gene: HTRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HTRA1 was set to Unknown Phenotypes for gene: HTRA1 were set to Dementia