Skeletal dysplasia
Gene: FUCA1
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - Q351* in 20% of families.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis 230000
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: FUCA1; 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, 12:14 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis 230000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Fucosidosis 230000 for gene: FUCA1
Source NHS GMS was added to FUCA1. 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 FUCA1 were set to Fucosidosis 230000
Mode of inheritance for FUCA1 was changed to BIALLELIC, autosomal or pseudoautosomal
FUCA1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FUCA1 was added to Unexplained skeletal dysplasiapanel. Sources:
FUCA1 was created by sleigh