Skeletal dysplasia
Gene: SUCO
Copied from the Osteogenesis imperfecta panel to the Skeletal Dysplasia panel. Amber rating.Created: 24 Sep 2021, 5:13 p.m. | Last Modified: 24 Sep 2021, 5:13 p.m.
Panel Version: 2.122
Comment on list classification: Promoting from grey to amber. 1 case plus supportive mouse model.Created: 16 Sep 2021, 10:41 a.m. | Last Modified: 16 Sep 2021, 10:41 a.m.
Panel Version: 2.30
Not associated with any phenotype in OMIM https://omim.org/entry/619434
PMID: 29620724 - Maddirevula et al 2018 - performed detailed phenotyping and next-generation sequencing of individuals from 288 families with various forms of skeletal dysplasia. Report a male patient with nonconsanguineous parents with compound het variants in SUCO showing diffuse osteopenia, multiple fractures with limb deformities, and short long bones
PMID: 20440000 - Sohaskey et al 2010 - mouse model of Opt -/- mice (Opt is now renamed Suco and is 1:1 ortholog with human SUCO). Beginning at ∼P5, Opt−/− mice exhibited striking skeletal deformities that included misshapen long bones, internal hemorrhaging around forelimbs and cervical vertebrae, inflexible joints, and spontaneous fractures.Created: 16 Sep 2021, 10:40 a.m. | Last Modified: 16 Sep 2021, 10:40 a.m.
Panel Version: 2.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
skeletal dysplasia; osteopenia
Publications
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: LiteratureCreated: 12 Sep 2021, 5:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta
Publications
gene: SUCO was added gene: SUCO was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature 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, MONDO:0019019; skeletal dysplasia, HP:0002652; osteopenia