Skeletal dysplasia
Gene: MPDU1
Listed in nosology paper as a condition resembling storage diseases. Severe dwarfism reported in at least one case - at least 3 reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type If 609180
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: MPDU1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 7:51 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type If 609180
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Congenital disorder of glycosylation, type If 609180 for gene: MPDU1
Source NHS GMS was added to MPDU1. 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 MPDU1 were set to Congenital disorder of glycosylation, type If 609180
Mode of inheritance for MPDU1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MPDU1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
MPDU1 was created by sleigh
MPDU1 was added to Unexplained skeletal dysplasiapanel. Sources: