Hand and foot malformations
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
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Myxoma, intracardiac 255960
- Acrodysostosis 1, with or without hormone resistance 101800
- Pigmented nodular adrenocortical disease, primary, 1 610489
- 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
22 Sep 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRKAR1A was added gene: PRKAR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRKAR1A were set to Myxoma, intracardiac 255960; Acrodysostosis 1, with or without hormone resistance 101800; Pigmented nodular adrenocortical disease, primary, 1 610489