Inherited phaeochromocytoma and paraganglioma

Gene: RET

Green List (high evidence)

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

4 reviews

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
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Multiple Endocrine Neoplasia
  • 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
OMIM
164761
Clinvar variants
Variants in RET
Penetrance
Complete
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

6 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2016, Gel status: 4

Set mode of pathogenicity

Ellen Thomas (Genomics England Curator)

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

6 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for RET was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory