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Skeletal dysplasia

Gene: PRKAR1A

Green List (high evidence)

PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 19 panels

4 reviews

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, 11:44 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

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PRKAR1A; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 12 Jul 2016, 11:53 a.m.
Comment on phenotypes: Variants also reported in Carney complex, type 1 160980 and Adrenocortical tumor, somatic
Created: 12 Jul 2016, 11:52 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Acrodysostosis 1, with or without hormone resistance 101800; Adrenocortical tumor, somatic; Carney complex, type 1 160980; Myxoma, intracardiac 255960; Pigmented nodular adrenocortical disease, primary, 1 610489

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Acrodysostosis 1, with or without hormone resistance 101800
  • Myxoma, intracardiac 255960
  • Pigmented nodular adrenocortical disease, primary, 1 610489
OMIM
188830
Clinvar variants
Variants in PRKAR1A
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Acrodysostosis 1, with or without hormone resistance 101800 for gene: PRKAR1A

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PRKAR1A. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

12 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PRKAR1A were set to Acrodysostosis 1, with or without hormone resistance 101800; Myxoma, intracardiac 255960; Pigmented nodular adrenocortical disease, primary, 1 610489

12 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PRKAR1A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

PRKAR1A was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PRKAR1A was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRKAR1A was created by sleigh