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Skeletal dysplasia

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 1 panel

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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
  • Expert Review Amber
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
Tags
Q2_21_rating
OMIM
614708
Clinvar variants
Variants in SCUBE3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SCUBE3 were changed from to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scube3 has been classified as Amber List (Moderate Evidence).

1 Apr 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SCUBE3.

1 Apr 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCUBE3 were set to

6 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: scube3 has been classified as Red List (Low Evidence).

23 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set penetrance

Zerin Hyder (Genomics England)

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