Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: HTRA2EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels
5 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Tracy Briggs (Manchester Genomic Medicine Centre)
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Louise Daugherty (Genomics England Curator)
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 13 Jun 2018, 1:51 p.m.
Sophie Hambleton (Newcastle University)
Phenotypes
early onset neurological syndrome; neutropenia
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a possible G2P. At least 4 homozygous variants reported in 4 unrelated ethnically diverse families. Segregation with the condition demonstrated for two of the variants (PMID 27208207) and functional studies provided for the remaining two variants (PMID 27696117).Created: 5 Sep 2017, 8:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VIII 617248
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- Congenital neutropaenia v1.22
- Phenotypes
-
- 3-methylglutaconic aciduria, type VIII, 617248
- early onset neurological syndrome
- neutropenia
- OMIM
- 606441
- Clinvar variants
- Variants in HTRA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Monogenic hearing loss
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HTRA2.
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to HTRA2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to HTRA2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: htra2 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248; early onset neurological syndrome; neutropenia
Added New Source
Louise Daugherty (Genomics England Curator)HTRA2 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
Created
Louise Daugherty (Genomics England Curator)HTRA2 was created by Louise Daugherty