1. Genes and Genomic Entities
  2. PRKAR1A

PRKAR1A

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

20 panels

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

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

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 1.8

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 1.4

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 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

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


Level 2: Endocrinology
Version 1.11
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


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

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 1.15

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 1.12

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


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (7 Aug 2024)

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


Level 2: Endocrinology
Version 3.4
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


Level 2: Dermatology
Version 2.5
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 1.30

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 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Acrodysostosis 1, with or without hormone resistance, OMIM:101800
    Green PRKAR1A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

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


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    		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 Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis


    Level 2: Endocrinology
    Version 1.10
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Acrodysostosis type 1, OMIM:101800
    • Acrodysostosis 1 with or without hormone resistance, MONDO:0007044
    Green PRKAR1A in Carney complex


    Level 2: Endocrinology
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Carney complex, OMIM:160980
    • Carney complex, type 1, MONDO:0008057