COVID-19 research
Gene: HTRA2
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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
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.
Phenotypes
early onset neurological syndrome; neutropenia
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
gene: HTRA2 was added gene: HTRA2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,Congenital neutropaenia v1.22,NHS GMS,London North GLH Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248; early onset neurological syndrome; neutropenia