Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Gene: PRKAR1A
PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 15 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- 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
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PRKAR1A was added gene: PRKAR1A was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKAR1A was set to Unknown