Craniosynostosis
Gene: SHOC2EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 14 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
Two unrelated individuals with SHOC2-related Noonan syndrome and craniosynostosis; other Noonan syndrome genotypes have higher incidence of craniosynostosis.
Sources: LiteratureCreated: 17 Jun 2020, 12:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome with loose anagen hair
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Noonan syndrome with loose anagen hair
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Growth failure
- Rasopathy
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Cardiomyopathy_Paediatric
- Mendeliome
- Lymphoedema_syndromic
History Filter Activity
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Tiong Tan (Victorian Clinical Genetics Services)gene: SHOC2 was added gene: SHOC2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 28650561; 25123707 Phenotypes for gene: SHOC2 were set to Noonan syndrome with loose anagen hair Penetrance for gene: SHOC2 were set to Complete Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SHOC2 was set to AMBER