GMS Musculoskeletal specialist test group Skeletal dysplasia
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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Acromelic dysplasias gp of SD - >3 cases. Variants also associated with Myxoma, intracardiac 255960;Pigmented nodular adrenocortical disease, primary, 1 610489; Carney complex type 1 160980. recurrent R368* variant only. Other variants in gene associated with other phenotypes.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Acrodysostosis 1, with or without hormone resistance 101800

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Acrodysostosis 1, with or without hormone resistance 101800

OMIM

188830

Clinvar variants

Variants in PRKAR1A

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PRKAR1A was added gene: PRKAR1A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRKAR1A were set to Acrodysostosis 1, with or without hormone resistance 101800

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: PRKAR1A