PanelApp (test)
  1. Genes and Genomic Entities
  2. PRKAR1A:Ensemblv90

PRKAR1A:Ensemblv90

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

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green PRKAR1A in Mendeliome


Version 1.3802

1 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 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PRKAR1A in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 0.33

1 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

Green PRKAR1A in Additional findings_Adult


Level 2: Screening
Version 1.130

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

Green PRKAR1A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 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 0.365

1 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

Red PRKAR1A in CGC_86


Version 0.3

0 reviews Other
Sources
  • CGC_86
Phenotypes
  • Carney complex

Red PRKAR1A in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • Carney complex

Red PRKAR1A in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Carney complex

Green PRKAR1A in Schwannomatosis


Level 2: Neurology and neurodevelopmental disorders
Version 0.17

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Carney complex, type 1 MIM#160980

Green PRKAR1A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews 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

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green PRKAR1A in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.77

1 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 0.80

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews 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 1.482

    		1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 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 Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green PRKAR1A in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


    Level 2: Endocrine disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Acrodysostosis 1, with or without hormone resistance, MIM# 101800

    Green PRKAR1A in Additional findings_Adult


    Level 2: Screening
    Version 2.0

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

    Green PRKAR1A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

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

    Green PRKAR1A in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Carney complex, type 1 MIM#160980

    Green PRKAR1A in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

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

    Green PRKAR1A in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    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 1.0

    		0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myxoma, intracardiac 255960
    • Acrodysostosis 1, with or without hormone resistance 101800
    • Pigmented nodular adrenocortical disease, primary, 1 610489

    Green PRKAR1A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

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