Lymphoedema_syndromic
Gene: SHOC2
SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan-like syndrome with loose anagen hair 607721
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- None
- Publications
- 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
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: SHOC2 was added gene: SHOC2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146 Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair 607721