Paraganglioma_phaeochromocytoma
Gene: PRKAR1A

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)

Red List (low evidence)

ClinGen definitive. BUT paragangliomas and phaeochromocytomas not classically reported in condition.
Sources: Expert list, Expert Review, Literature
Created: 18 Sep 2024, 9:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Carney complex, type 1, MIM#160980

Created: 18 Sep 2024, 9:36 p.m.

Panel version: 0.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature
Expert Review
Expert list

Phenotypes

Paraganglioma, MONDO:0000448
Pheochromocytoma, MONDO:0008233
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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkar1a has been classified as Red List (Low Evidence).

18 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 Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Carney complex, type 1, MIM#160980 Review for gene: PRKAR1A was set to RED

Paraganglioma_phaeochromocytoma Gene: PRKAR1A