PanelApp
  1. Genes and Genomic Entities
  2. PDE4D

PDE4D

phosphodiesterase 4D
OMIM: 600129, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PDE4D in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance, MIM# 614613

Green PDE4D 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 2, with or without hormone resistance, MIM# 614613

Green PDE4D in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance, MIM# 614613

Green PDE4D in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance 614613
  • Acrodysostosis 2, with or without hormone resistance 614613

Green PDE4D 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
  • Acrodysostosis 2, with or without hormone resistance

Green PDE4D in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.78

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Acrodysostosis 2, with or without hormone resistance 614613

    Green PDE4D in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Acrodysostosis 2, with or without hormone resistance, MIM# 614613

    Red PDE4D in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Acrodysostosis 2, with or without hormone resistance, MIM#614613