Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: RET

Green List (high evidence)

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

5 reviews

Ivone Leong (Genomics England Curator)

Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.
Created: 31 Jul 2019, 2:43 p.m. | Last Modified: 31 Jul 2019, 2:47 p.m.
Panel Version: 1.0
Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 11 Mar 2019, 1:23 p.m.

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Katie Snape (South London GMC)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Need to transfer list of curated pathogenic gain-of-function mutations from the additional findings curated list, to go into tier 1.
Created: 6 Feb 2016, 5:42 p.m.
Comment on mode of pathogenicity: Curated list of gain-of-function variants being developed for additional findings analysis; these need to be added as known pathogenic variants for tier 1.
Created: 6 Feb 2016, 5:41 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

Widely reported and UKGTN approved. Specific gain of function mutations.
Created: 30 Sep 2015, 11:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PCC; PGL,MEN2,FIHP

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623
  • Multiple Endocrine Neoplasia
OMIM
164761
Clinvar variants
Variants in RET
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ret has been classified as Green List (High Evidence).

11 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

gene: RET was added gene: RET was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Multiple Endocrine Neoplasia Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments