Skeletal dysplasia
Gene: PDE4D
Acromelic dysplasias gp of SD - >3 cases. all missense variants; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 2, with or without hormone resistance 614613
Mode of pathogenicity
Other - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PDE4D; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:02 p.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 2, with or without hormone resistance 614613
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Acrodysostosis 2, with or without hormone resistance 614613 for gene: PDE4D
Source NHS GMS was added to PDE4D. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PDE4D were set to Acrodysostosis 2, with or without hormone resistance 614613
Mode of inheritance for PDE4D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
PDE4D was created by sleigh
PDE4D was added to Unexplained skeletal dysplasiapanel. Sources: