Skeletal dysplasia
Gene: NAGLU
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - several cases. Arg674 is a hotspot; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
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: NAGLU; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and with Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 in G2P. Numerous variants reported in Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920Created: 29 Jul 2016, 8:14 a.m.
Comment on phenotypes: One monoallelic variant also reported in Charcot-Marie-Tooth disease, axonal, type 2V 616491Created: 29 Jul 2016, 8:14 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Charcot-Marie-Tooth disease, axonal, type 2V 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 for gene: NAGLU
Source NHS GMS was added to NAGLU. 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 NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Mode of inheritance for NAGLU was changed to BIALLELIC, autosomal or pseudoautosomal
NAGLU was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NAGLU was added to Unexplained skeletal dysplasiapanel. Sources:
NAGLU was created by sleigh