Skeletal dysplasia
Gene: MAN2B1
Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis Multiplex group of SD) - >3 cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II 248500
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: MAN2B1; 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: 29 Jul 2016, 7:17 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II 248500
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mannosidosis, alpha-, types I and II 248500 for gene: MAN2B1
Source NHS GMS was added to MAN2B1. 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 MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal
MAN2B1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MAN2B1 was added to Unexplained skeletal dysplasiapanel. Sources:
MAN2B1 was created by sleigh