Inherited non-medullary thyroid cancer

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

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.

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.

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

History Filter Activity

7 Aug 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

All genes have been reviewed and the reviews evaluated. 07.08.2017

27 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jun 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PRKAR1A were set to Carney complex, type 1 160980

27 Jun 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PRKAR1A were set to 9215269; 27943004

18 May 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Source: UKGTN

18 May 2017, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen

18 May 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Source: Illumina TruGenome Clinical Sequencing Services

18 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRKAR1A was created by sleigh

18 May 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Sources: Emory Genetics Laboratory