Skeletal dysplasia
Gene: GALNS
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000
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: GALNS; 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, 12:49 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis IVA 253000 for gene: GALNS
Source NHS GMS was added to GALNS. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for GALNS were set to Mucopolysaccharidosis IVA 253000
Mode of inheritance for GALNS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GALNS was created by sleigh
GALNS was added to Unexplained skeletal dysplasiapanel. Sources: