Skeletal dysplasia
Gene: SPARCComment 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
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only two variants reportedCreated: 1 Aug 2016, 7:27 a.m.
Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). Only two variants reportedCreated: 8 Jul 2016, 1:15 p.m.
Tier 1Created: 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
Phenotypes for gene: SPARC were changed from Osteogenesis imperfecta, type XVII 616507 to Osteogenesis imperfecta, type XVII, OMIM:616507
Publications for gene: SPARC were set to 26027498
Gene: sparc has been classified as Green List (High Evidence).
Publications for gene: SPARC were set to
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
SPARC was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
SPARCAll sources for gene: SPARC were removed
This gene has been classified as Red List (Low Evidence).
Phenotypes for SPARC were set to Osteogenesis imperfecta, type XVII 616507
SPARC was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN
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
SPARC was added to Unexplained skeletal dysplasiapanel. Sources:
SPARC was created by sleigh