Inherited phaeochromocytoma and paraganglioma excluding NF1Gene: PRKAR1A
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that further evidence is needed to link Carney complex with phaeochromocytoma. Therefore demoting this gene to amber rating.
Created: 11 Mar 2019, 1:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Causes Carney complex. This doesn't classically present with isolated PCC or PGL but could in theory overlap if clinical features of Carney complex haven't been noted.
Created: 7 Feb 2016, 8:56 p.m.
Gene: prkar1a has been classified as Amber List (Moderate Evidence).
gene: PRKAR1A was added gene: PRKAR1A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Endocrine Cancer; Carney complex