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STRs in panel
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Primary immunodeficiency

Gene: RET

Red List (low evidence)

RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 28 panels

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Not associated with immune disorder
Created: 29 Jun 2018, 3:16 p.m.

Sarah Leigh (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

History Filter Activity

17 Sep 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to RET. Source GOSH PID v.8.0 was added to RET.

17 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RET were set to

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital 209880

17 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to RET.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RET.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RET was added gene: RET was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: RET was set to