Pigmentary skin disorders
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
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PRKAR1A; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PPNAD1
- CARNEY COMPLEX, TYPE 1
- Carney complex
- CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Parathyroid Cancer
- Pigmentary skin disorders
- Childhood solid tumours
- Osteogenesis imperfecta
- Intellectual disability
- Multiple endocrine tumours
- Endocrine neoplasia
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- DDG2P
- Congenital hypothyroidism
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Carney complex
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes PPNAD1; CARNEY COMPLEX, TYPE 1; CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 for gene: PRKAR1A Publications for gene PRKAR1A were changed from to 12213893; 10973256
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PRKAR1A.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PRKAR1A was added gene: PRKAR1A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Carney complex