Osteogenesis imperfecta
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 Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- Complete
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Endocrine neoplasia
- Multiple endocrine tumours
- Congenital hypothyroidism
- Childhood solid tumours
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Carney complex
- Multiple monogenic benign skin tumours
- Inherited phaeochromocytoma and paraganglioma
- DDG2P
- Parathyroid Cancer
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Fetal anomalies
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PRKAR1A.
14 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory