Osteogenesis imperfecta
Gene: SPARC
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SPARC; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Type XVII
Publications
Comment on list classification: Added by a reviewer, and two additional reviewers agree this should be green.Created: 12 May 2016, 1:52 p.m.
https://oi.gene.le.ac.uk/home.php?select_db=SPARCCreated: 8 Dec 2015, noon
Phenotypes for gene: SPARC were changed from Osteogenesis Imperfecta, Type XVII; Osteogenesis Imperfecta to Osteogenesis imperfecta, type XVII, OMIM:616507
Publications for gene: SPARC were set to 26027498
Source NHS GMS was added to SPARC. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for SPARC were set to Osteogenesis Imperfecta, Type XVII; Osteogenesis Imperfecta
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SPARC was set to BIALLELIC, autosomal or pseudoautosomal
SPARC was added to Osteogenesis Imperfecta panel. Source: Literature
SPARC was added to Osteogenesis Imperfecta panel. Sources: Expert Review,Literature