This Panel is marked as Internal
Sudden cardiac death - previous panel
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
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- London South GLH
- Expert Review Green
- Phenotypes
-
- syndromic HCM
- Noonan-like syndrome with loose anagen hair
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- None
- 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
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Intellectual disability
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: SHOC2 was added gene: SHOC2 was added to Sudden cardiac death. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 22528146; 23918763; 19684605 Phenotypes for gene: SHOC2 were set to syndromic HCM; Noonan-like syndrome with loose anagen hair 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