Inherited phaeochromocytoma and paraganglioma excluding NF1
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
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that further evidence is needed to link Carney complex with phaeochromocytoma. Therefore demoting this gene to amber rating.Created: 11 Mar 2019, 1:29 p.m.
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Treena Cranston (Oxford)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes Carney complex. This doesn't classically present with isolated PCC or PGL but could in theory overlap if clinical features of Carney complex haven't been noted.Created: 7 Feb 2016, 8:56 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Endocrine Cancer
- Carney complex
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Multiple monogenic benign skin tumours
- DDG2P
- Parathyroid Cancer
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Childhood solid tumours
- Multiple endocrine tumours
- Endocrine neoplasia
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Congenital hypothyroidism
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Carney complex
History Filter Activity
11 Mar 2019, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: prkar1a has been classified as Amber List (Moderate Evidence).
11 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PRKAR1A was added gene: PRKAR1A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Endocrine Cancer; Carney complex