Skeletal dysplasia
Gene: GNPTG
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex 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
Mucolipidosis III gamma 252605
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: GNPTG; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 1:31 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis III gamma 252605
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucolipidosis III gamma 252605 for gene: GNPTG
Source NHS GMS was added to GNPTG. 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 GNPTG were set to Mucolipidosis III gamma 252605
Mode of inheritance for GNPTG was changed to BIALLELIC, autosomal or pseudoautosomal
GNPTG was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GNPTG was added to Unexplained skeletal dysplasiapanel. Sources:
GNPTG was created by sleigh