Skeletal dysplasia
Gene: SCUBE3
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184.Created: 1 Apr 2021, 10:58 a.m. | Last Modified: 14 Oct 2021, 10:32 a.m.
Panel Version: 2.137
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 1 Apr 2021, 10:55 a.m. | Last Modified: 1 Apr 2021, 10:55 a.m.
Panel Version: 2.85
Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.Created: 7 Jan 2021, 9:56 a.m. | Last Modified: 7 Jan 2021, 9:56 a.m.
Panel Version: 2.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Rating Red as currently only one case reported with a potentially pathogenic variant associated with skeletal dysplasia. Additional cases required to corroborate causality.Created: 6 Nov 2020, 5:39 p.m. | Last Modified: 6 Nov 2020, 5:39 p.m.
Panel Version: 2.30
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.
Panel Version: 2.184
A variant in this gene has been found in a 100K proband as potentially being the cause of a skeletal dysplasia.Created: 14 Jan 2020, 3:47 p.m. | Last Modified: 14 Jan 2020, 3:48 p.m.
Panel Version: 2.0
Tag Q2_21_rating was removed from gene: SCUBE3.
Source Expert Review Green was added to SCUBE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
Phenotypes for gene: SCUBE3 were changed from to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
Gene: scube3 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SCUBE3.
Publications for gene: SCUBE3 were set to
Gene: scube3 has been classified as Red List (Low Evidence).
gene: SCUBE3 was added gene: SCUBE3 was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Penetrance for gene: SCUBE3 were set to unknown