Hypertrophic cardiomyopathy
Gene: SHOC2
SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
2 reviews
Rebecca Whittington (South West GLH)
Noonan-like syndrome with loose anagen hair (607721)Created: 25 Mar 2019, 4:30 p.m.
Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to SHOC2. Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SHOC2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list