Skeletal dysplasia
Gene: PTDSS1
Other sclerosing bone disorders gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lenz-Majewski hyperostotic dwarfism 151050
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: PTDSS1; 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, 1:03 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lenz-Majewski hyperostotic dwarfism 151050
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Lenz-Majewski hyperostotic dwarfism 151050 for gene: PTDSS1
Source NHS GMS was added to PTDSS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050
Mode of inheritance for PTDSS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
PTDSS1 was added to Unexplained skeletal dysplasiapanel. Sources:
PTDSS1 was created by sleigh