This Panel is marked as Deleted
GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
Gene: HTRA1
HTRA1 (HtrA serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000166033
EnsemblGeneIds (GRCh37): ENSG00000166033
OMIM: 602194, Gene2Phenotype
HTRA1 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: HTRA1; Suggested initial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Red in Cerebral vascular malformations PanelAppCreated: 27 Feb 2019, 3:14 p.m.
Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)
Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.Created: 27 Feb 2019, 2:22 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- OMIM
- 602194
- Clinvar variants
- Variants in HTRA1
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Cerebral vascular malformations
- Adult onset leukodystrophy
History Filter Activity
27 Feb 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to HTRA1.
27 Feb 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HTRA1.
27 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: HTRA1 was added gene: HTRA1 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: HTRA1 was set to