Inherited phaeochromocytoma and paraganglioma
Gene: RET
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
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
This gene has been classified as Green List (High Evidence).
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
Mode of inheritance for RET was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen
RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services
RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
RET was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory