PDE11A

phosphodiesterase 11A
OMIM: 604961, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PDE11A in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475
Tags
  • disputed

Red PDE11A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2, MIM#610475

Red PDE11A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Adrenocortical hyperplasia

Red PDE11A in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Adrenocortical hyperplasia