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  2. Pituitary Tumour
  3. PRKAR1A
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Pituitary Tumour

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 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Created: 26 Sep 2024, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Carney complex type 1, MONDO:0008057; Carney complex, type 1, MIM#160980

Created: 26 Sep 2024, 2:50 a.m.

Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Pituitary tumor, MONDO:0017611
  • Pituitary gland adenoma, MONDO:0006373
  • Carney complex type 1, MONDO:0008057
  • Carney complex, type 1, MIM#160980
OMIM
188830
Clinvar variants
Variants in PRKAR1A
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkar1a has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: prkar1a has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PRKAR1A was added gene: PRKAR1A was added to Pituitary Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Carney complex type 1, MONDO:0008057; Carney complex, type 1, MIM#160980 Review for gene: PRKAR1A was set to GREEN