COVID-19 research
Gene: OTULIN
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
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
Comment on list classification: 3 unrelated cases of OTULIN variants causing MIM:617099 from PMID:27523608 and PMID:27559085. Confirmed DD-G2P for ORAS syndrome (alternative name for MIM:617099). Symptoms of MIM:617099 include recurrent fevers. PMID:27559085 (Zhou et al 2016) report 2 missense and 1 frameshift mutation in OTULIN in one Pakistani family and 2 Turkish families. The Pakistani family is the same family that is reported in PMID:27523608. PMID:27523608 (Damgaard et al, 2016) report 3 affected members of a consanguineous Pakistani family with MIM:617099. From Rebecca Foulger (review of Periodic fevers panel 15 Aug 2017)Created: 19 Jun 2018, 3:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome 617099
Publications
Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, 617099; Fever, diarrhea , dermatitis; Autoinflammatory Disorders to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099; Fever, diarrhoea, dermatitis; Autoinflammatory Disorders
gene: OTULIN was added gene: OTULIN was added to Viral susceptibility. Sources: Expert Review Green,Expert Review,Victorian Clinical Genetics Services,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27559085; 27523608 Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, 617099; Fever, diarrhea , dermatitis; Autoinflammatory Disorders