Inherited non-medullary thyroid cancer
Gene: PRKAR1AComment 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 610489Created: 27 Jun 2017, 8:12 a.m.
again, would include but other manifestations likely to be apparentCreated: 13 Jun 2017, 6:15 a.m.
Recognised association with benign and malignant thyroid diseaseCreated: 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
All genes have been reviewed and the reviews evaluated. 07.08.2017
This gene has been classified as Green List (High Evidence).
Phenotypes for PRKAR1A were set to Carney complex, type 1 160980
Publications for PRKAR1A were set to 9215269; 27943004
PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Source: UKGTN
PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen
PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Source: Illumina TruGenome Clinical Sequencing Services
PRKAR1A was created by sleigh
PRKAR1A was added to Inherited non-medullary thyroid cancerpanel. Sources: Emory Genetics Laboratory