Endocrine neoplasia
Gene: PRKAR1AEnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels
1 review
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:36 p.m. | Last Modified: 3 Mar 2022, 1:36 p.m.
Panel Version: 1.25
This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.
This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.
This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert ReviewCreated: 28 Jan 2021, 10:23 a.m. | Last Modified: 16 Feb 2021, 10:14 a.m.
Panel Version: 1.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endocrine Cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Endocrine Cancer
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Osteogenesis imperfecta
- Endocrine neoplasia
- Multiple endocrine tumours
- Congenital hypothyroidism
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Carney complex
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Inherited phaeochromocytoma and paraganglioma
- Intellectual disability
- DDG2P
- Parathyroid Cancer
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Pigmentary skin disorders
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: PRKAR1A.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to PRKAR1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: prkar1a has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: PRKAR1A.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PRKAR1A was added gene: PRKAR1A was added to Endocrine neoplasms. Sources: Expert Review Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Endocrine Cancer Review for gene: PRKAR1A was set to AMBER