Inherited non-medullary thyroid cancer
Gene: PRKAR1A

PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with Carney complex, type 1 160980 (which can include thyroid cancer) in OMIM and as a confirmed G2P. At least 10 variants reported.
Created: 27 Jun 2017, 8:14 a.m.

Comment on phenotypes: Variants also associated with Acrodysostosis 1, with or without hormone resistance 101800; Adrenocortical tumor, somatic;
Myxoma, intracardiac 255960;
Pigmented nodular adrenocortical disease, primary, 1 610489
Created: 27 Jun 2017, 8:12 a.m.

Created: 27 Jun 2017, 8:12 a.m.

Panel version: 0.26

Emma Woodward (Manchester Centre for Genomic Medicine)

Green List (high evidence)

again, would include but other manifestations likely to be apparent
Created: 13 Jun 2017, 6:15 a.m.

Created: 13 Jun 2017, 6:15 a.m.

Panel version: 0.5

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Recognised association with benign and malignant thyroid disease
Created: 9 Jun 2017, 7:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Carney complex; atrial myxomas; abnormal pigmentation; endocrine overactvity

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jun 2017, 7:51 a.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Carney complex, type 1 160980

OMIM

188830

Clinvar variants

Variants in PRKAR1A

Penetrance

Complete

Publications

Panels with this gene