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Skeletal dysplasia

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

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

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XVII 616507
OMIM
182120
Clinvar variants
Variants in SPARC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

SPARC was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

1 Aug 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

SPARCAll sources for gene: SPARC were removed

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SPARC were set to Osteogenesis imperfecta, type XVII 616507

8 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

SPARC was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SPARC was added to Unexplained skeletal dysplasiapanel. Source: Expert Review SPARC was added to Unexplained skeletal dysplasiapanel. Source: Literature SPARC was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene SPARC was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SPARC was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SPARC was created by sleigh