PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha
OMIM: 188830, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Red PRKAR1A in Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.4

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia
Green PRKAR1A in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Carney complex, type 1 160980
Green PRKAR1A in Thyroid cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Carney complex
  • Myxoma (cardiac or cutaneous or breast)
Green PRKAR1A in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert List
Phenotypes
  • Familial Primary Pigmented Nodular Adrenocortical disease
  • Carney Complex
Green PRKAR1A in Primary pigmented nodular adrenocortical disease


Version 1.10
Latest signed off version: v1.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489
Green PRKAR1A in Pigmentary skin disorders


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PPNAD1
  • CARNEY COMPLEX, TYPE 1
  • Carney complex
  • CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
Green PRKAR1A in Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
Green PRKAR1A in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • Carney complex
Amber PRKAR1A in Inherited phaeochromocytoma and paraganglioma excluding NF1


Version 2.6
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Endocrine Cancer
  • Carney complex
Green PRKAR1A in Endocrine neoplasia


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Endocrine Cancer
No list PRKAR1A in Multiple monogenic benign skin tumours


Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Carney complex
Tags
  • curated_removed
Green PRKAR1A in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Carney Complex
  • Familial Primary Pigmented Nodular Adrenocortical disease
Green PRKAR1A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    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, OMIM:101800
    Green PRKAR1A in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACRODYSOSTOSIS
    No list PRKAR1A in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green PRKAR1A in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACRODYSOSTOSIS 101800
    Red PRKAR1A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Acrodysostosis 1, with or without hormone resistance, OMIM:101800
    Green PRKAR1A in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones
    • Acrodysostosis 1, with or without hormone resistance, 101800
    Green PRKAR1A in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pigmented nodular adrenocortical disease, primary, 1, 610489
    • Carney complex, type 1, 160980
    • Acrodysostosis 1, with or without hormone resistance, 101800
    • Myxoma, intracardiac, 255960
    Green PRKAR1A in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Green PRKAR1A in Carney complex


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green