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  2. Osteogenesis Imperfecta and Osteoporosis
  3. SPARC
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Osteogenesis Imperfecta and Osteoporosis

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Created: 26 Mar 2023, 11:44 p.m. | Last Modified: 26 Mar 2023, 11:44 p.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XVII, MIM# 616507

Publications

Created: 26 Mar 2023, 11:44 p.m.
Last Modified: 26 Mar 2023, 11:44 p.m.
Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507
OMIM
182120
Clinvar variants
Variants in SPARC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPARC were set to

26 Mar 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPARC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPARC was added gene: SPARC was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPARC was set to Unknown