Skeletal dysplasia
Gene: PRKAR1AEnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. Multiple families reported, some with isolated cardiac or endocrine findings. All of these disorders likely represent a continuum.Created: 18 Apr 2022, 9:06 a.m. | Last Modified: 18 Apr 2022, 9:06 a.m.
Panel Version: 0.13004
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pigmented nodular adrenocortical disease, primary, 1 610489
- Acrodysostosis 1, with or without hormone resistance 101800
- Myxoma, intracardiac 255960
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- Panels with this gene
-
- Schwannoma
- Incidentalome_PREGEN_DRAFT
- Pituitary Tumour
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
- Hand and foot malformations
- Congenital hypothyroidism
- Paraganglioma_phaeochromocytoma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Thyroid Cancer
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PRKAR1A was added gene: PRKAR1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1 610489; Acrodysostosis 1, with or without hormone resistance 101800; Myxoma, intracardiac 255960