PDE11A

phosphodiesterase 11A
OMIM: 604961, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PDE11A in Mendeliome


Version 1.3499

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505
Tags
  • disputed

Red PDE11A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.398

1 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

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

Red PDE11A in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

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

Green PDE11A in Primary pigmented nodular adrenocortical disease

Level 3: Adrenal disorders
Level 2: Endocrine disorders; Cancer Predisposition
Version 0.12

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505