PRKAR1B:Ensemblv90

protein kinase cAMP-dependent type I regulatory subunit beta
OMIM: 176911, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PRKAR1B in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Marbach-Schaaf neurodevelopmental syndrome MIM#619680
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Attention deficit hyperactivity disorder
  • Aggressive behavior
  • Abnormality of movement
  • Upslanted palpebral fissure

Green PRKAR1B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Marbach-Schaaf neurodevelopmental syndrome MIM#619680
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Attention deficit hyperactivity disorder
  • Aggressive behavior
  • Abnormality of movement
  • Upslanted palpebral fissure