Skeletal dysplasia
Gene: GNPTAB
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 II alpha/beta 252500; Mucolipidosis III alpha/beta 252600
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: GNPTAB; 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, 1:28 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis II alpha/beta 252500
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 for gene: GNPTAB
Source NHS GMS was added to GNPTAB. 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 GNPTAB were set to Mucolipidosis II alpha/beta 252500; Mucolipidosis III alpha/beta 252600
GNPTAB was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GNPTABAll sources for gene: GNPTAB were removed
GNPTAB was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GNPTAB was added to Unexplained skeletal dysplasiapanel. Source: Expert Review GNPTAB was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
GNPTAB was created by sleigh
GNPTAB was added to Unexplained skeletal dysplasiapanel. Sources: