Skeletal dysplasiaGene: SCUBE3
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).
Created: 1 Apr 2021, 10:58 a.m. | Last Modified: 1 Apr 2021, 10:58 a.m.
Panel Version: 2.85
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
Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
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
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
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