Skeletal dysplasia
Gene: SPARC

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Created: 11 Dec 2019, 2:14 p.m. | Last Modified: 11 Dec 2019, 2:14 p.m.

Panel Version: 1.264

Created: 11 Dec 2019, 2:14 p.m.
Last Modified: 11 Dec 2019, 2:14 p.m.
Panel version: 1.264

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only two variants reported
Created: 1 Aug 2016, 7:27 a.m.

Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). Only two variants reported
Created: 8 Jul 2016, 1:15 p.m.

Created: 8 Jul 2016, 1:15 p.m.

Panel version: 0.348

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XVII 616507

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Osteogenesis imperfecta, type XVII, OMIM:616507

OMIM

182120

Clinvar variants

Variants in SPARC

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Sep 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPARC were changed from Osteogenesis imperfecta, type XVII 616507 to Osteogenesis imperfecta, type XVII, OMIM:616507

3 Sep 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SPARC were set to 26027498

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sparc has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SPARC were set to

9 Aug 2016, Gel status: 1