Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: PRKAR1A

Amber List (moderate evidence)

PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 19 panels

4 reviews

Ivone Leong (Genomics England Curator)

I don't know

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.

Louise IZATT (GSTT Clinical Genetics Service)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Treena Cranston (Oxford)

I don't know

Ellen Thomas (Genomics England Curator)

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.

History Filter Activity

11 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: prkar1a has been classified as Amber List (Moderate Evidence).

11 Mar 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

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