Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: RETSubmitted 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.
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
Gene: ret has been classified as Green List (High Evidence).
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