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  3. SCUBE3
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Clefting 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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.

Clefting reported in 3 individuals.
Sources: Expert Review
Created: 4 Dec 2021, 12:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184

Publications

Created: 4 Dec 2021, 12:44 a.m.

Panel version: 0.155

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184
OMIM
614708
Clinvar variants
Variants in SCUBE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCUBE3 was added gene: SCUBE3 was added to Clefting disorders. Sources: Expert Review 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, MIM# 619184 Review for gene: SCUBE3 was set to AMBER