Skeletal dysplasia
Gene: GALNT3
211900 - Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial I 211900
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: GALNT3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 12 Jul 2016, 7:40 a.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900 for gene: GALNT3
Source NHS GMS was added to GALNT3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GALNT3 were set to Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900
Mode of inheritance for GALNT3 was changed to BIALLELIC, autosomal or pseudoautosomal
GALNT3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GALNT3 was added to Unexplained skeletal dysplasiapanel. Sources:
GALNT3 was created by sleigh