Skeletal dysplasia
Gene: SUMF1
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Multiple cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency 272200
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: SUMF1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 7:55 a.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple sulfatase deficiency 272200
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Multiple sulfatase deficiency 272200 for gene: SUMF1
Source NHS GMS was added to SUMF1. 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 SUMF1 were set to Multiple sulfatase deficiency 272200
Mode of inheritance for SUMF1 was changed to BIALLELIC, autosomal or pseudoautosomal
SUMF1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SUMF1 was created by sleigh
SUMF1 was added to Unexplained skeletal dysplasiapanel. Sources: