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Osteogenesis imperfecta

Gene: SPARC

Green List (high evidence)

SPARC (secreted protein acidic and cysteine rich)
EnsemblGeneIds (GRCh38): ENSG00000113140
EnsemblGeneIds (GRCh37): ENSG00000113140
OMIM: 182120, Gene2Phenotype
SPARC is in 4 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 3 Apr 2019, 4:08 p.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis Imperfecta

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis Imperfecta, Type XVII

Publications

Ellen McDonagh (Genomics England Curator)

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.

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://oi.gene.le.ac.uk/home.php?select_db=SPARC
Created: 8 Dec 2015, noon

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteogenesis Imperfecta, Type XVII
  • Osteogenesis Imperfecta
OMIM
182120
Clinvar variants
Variants in SPARC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SPARC. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SPARC were set to Osteogenesis Imperfecta, Type XVII; Osteogenesis Imperfecta

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Oct 2015, Gel status: 0

Set Mode of Inheritance

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Model of inheritance for gene SPARC was set to BIALLELIC, autosomal or pseudoautosomal

9 Oct 2015, Gel status: 0

Added New Source

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

SPARC was added to Osteogenesis Imperfecta panel. Source: Literature

9 Oct 2015, Gel status: 0

Added New Source

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

SPARC was added to Osteogenesis Imperfecta panel. Sources: Expert Review,Literature