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Limb disorders

Gene: SCUBE3

Amber List (moderate evidence)

SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000146197
EnsemblGeneIds (GRCh37): ENSG00000146197
OMIM: 614708, Gene2Phenotype
SCUBE3 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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. Brachydactyly was evident in 12/15 cases examined.
Created: 1 Apr 2021, 10:58 a.m. | Last Modified: 14 Oct 2021, 10:14 a.m.
Panel Version: 2.64
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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Arina Puzriakova (Genomics England Curator)

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

Eleanor Williams (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Amber
Phenotypes
  • 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
Tags
Q4_21_rating
OMIM
614708
Clinvar variants
Variants in SCUBE3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

14 Oct 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

14 Oct 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: SCUBE3.

14 Oct 2021, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SCUBE3.

14 Oct 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Sarah Leigh (Genomics England Curator)

gene: SCUBE3 was added gene: SCUBE3 was added to Limb disorders. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown