Osteogenesis Imperfecta and Osteoporosis
Gene: SUCO
SUCO (SUN domain containing ossification factor)
EnsemblGeneIds (GRCh38): ENSG00000094975
EnsemblGeneIds (GRCh37): ENSG00000094975
SUCO is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000094975
EnsemblGeneIds (GRCh37): ENSG00000094975
SUCO is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures.
Sources: Expert listCreated: 30 Aug 2021, 3:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Osteogenesis imperfecta
- Clinvar variants
- Variants in SUCO
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Aug 2021, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: suco has been classified as Amber List (Moderate Evidence).
30 Aug 2021, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: suco has been classified as Amber List (Moderate Evidence).
30 Aug 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SUCO was added gene: SUCO was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCO were set to 29620724; 20440000 Phenotypes for gene: SUCO were set to Osteogenesis imperfecta Review for gene: SUCO was set to AMBER