Skeletal dysplasia
Gene: PAPSS2
in sulphation disorders gp of SDs - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
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: PAPSS2; 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 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 for gene: PAPSS2
Source NHS GMS was added to PAPSS2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Mode of inheritance for PAPSS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PAPSS2 was added to Unexplained skeletal dysplasiapanel. Sources:
PAPSS2 was created by sleigh