Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: RET

Red List (low evidence)

Not associated with immune disorder

Created: 29 Jun 2018, 3:16 p.m.

Comment on phenotypes: Monoallelic RET variants also associated with Medullary thyroid carcinoma 155240, Multiple endocrine neoplasia IIA 171400, Multiple endocrine neoplasia IIB 162300, Pheochromocytoma 171300, {Hirschsprung disease, protection against} 142623, {Hirschsprung disease, susceptibility to, 1} 142623.

Created: 9 May 2018, 3:13 p.m.

Comment on list classification: Associated with Central hypoventilation syndrome, congenital 209880 phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases.

Created: 9 May 2018, 3:12 p.m.

I don't know

MEN2 / MTC - ?relevant phenotype / Hirschsprung in LOF

Created: 26 Sep 2019, 3:59 p.m. | Last Modified: 26 Sep 2019, 3:59 p.m.

Panel Version: 1.130

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 only enough evidence to rate this gene Red

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 only enough evidence to rate this gene Red

Created: 26 Sep 2019, 3:37 p.m. | Last Modified: 26 Sep 2019, 3:37 p.m.

Panel Version: 1.127

Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019

Created: 26 Sep 2019, 3:36 p.m. | Last Modified: 26 Sep 2019, 3:36 p.m.

Panel Version: 1.127

Comment on list classification: Changed from Amber to Red, no published cases of immunodeficiency to date. Red review from external expert review. Gene is pertinent on Victorian Clinical Genetics Services panel and GRID for Immunological disorders. Referred back to GOSH for evidences.

Created: 5 Jul 2018, 11:22 a.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 20 Apr 2018, 12:25 p.m.