PanelApp
  1. Genes and Genomic Entities
  2. PRKAR1A

PRKAR1A

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green PRKAR1A in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrodysostosis 1, with or without hormone resistance, MIM# 101800
  • Carney complex, type 1, MIM# 160980
  • Myxoma, intracardiac, MIM# 255960
  • Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489

Green PRKAR1A in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PRKAR1A in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 0.13

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PRKAR1A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Acrodysostosis 1, with or without hormone resistance, MIM#101800

Green PRKAR1A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 1 610489
  • Acrodysostosis 1, with or without hormone resistance 101800
  • Myxoma, intracardiac 255960

Green PRKAR1A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carney complex

Green PRKAR1A in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green PRKAR1A in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones
  • Acrodysostosis 1, with or without hormone resistance, 101800

Green PRKAR1A in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.76

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review 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

    Green PRKAR1A in Fetal anomalies


    Version 1.314

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Acrodysostosis 1, with or without hormone resistance, MIM#101800

    Green PRKAR1A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Carney complex, type 1, MIM# 160980
    Tags
    • cancer
    • treatable

    Green PRKAR1A in Schwannoma


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Schwannoma, MONDO:0002546
    • Carney complex type 1, MONDO:0008057
    • Carney complex, type 1, MIM#160980

    Green PRKAR1A in Thyroid Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Thyroid cancer, MONDO:0002108
    • Thyroid gland follicular carcinoma, MONDO:0005034
    • Carney complex type 1, MONDO:0008057
    • Carney complex, type 1, MIM#160980

    Green PRKAR1A in Pituitary Tumour


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Pituitary tumor, MONDO:0017611
    • Pituitary gland adenoma, MONDO:0006373
    • Carney complex type 1, MONDO:0008057
    • Carney complex, type 1, MIM#160980

    Red PRKAR1A in Paraganglioma_phaeochromocytoma


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Paraganglioma, MONDO:0000448
    • Pheochromocytoma, MONDO:0008233
    • Carney complex, type 1, MIM#160980