Retinitis pigmentosa_Autosomal Dominant
Gene: SPP2
SPP2 (secreted phosphoprotein 2)
EnsemblGeneIds (GRCh38): ENSG00000072080
EnsemblGeneIds (GRCh37): ENSG00000072080
OMIM: 602637, Gene2Phenotype
SPP2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000072080
EnsemblGeneIds (GRCh37): ENSG00000072080
OMIM: 602637, Gene2Phenotype
SPP2 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
A missense (p.Gly97Arg) identified by linkage and WES analysis, segregated with RP in a single family from a publication in 2015. Expression analyses and in vitro assays (showing an effect on function) were conducted, but there were no assays or animal models showing loss of function would cause retinal degeneration.Created: 7 Feb 2020, 9:27 p.m. | Last Modified: 7 Feb 2020, 9:27 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Autosomal dominant retinitis pigmentosa
- OMIM
- 602637
- Clinvar variants
- Variants in SPP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: spp2 has been classified as Red List (Low Evidence).
23 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SPP2 was added gene: SPP2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPP2 were set to 26459573 Phenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa