Inherited phaeochromocytoma and paraganglioma

Gene: PRKAR1A

Green List (high 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, PRKAR1A has been given an amber gene review.
Created: 11 Mar 2019, 1:33 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

7 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).

7 Feb 2016, Gel status: 4

Set Phenotypes

Ellen Thomas (Genomics England Curator)

Phenotypes for PRKAR1A were set to Endocrine Cancer; Carney complex

7 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PRKAR1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 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: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PRKAR1A was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PRKAR1A was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory