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  2. Cardiomyopathy_Paediatric
  3. SHOC2
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Cardiomyopathy_Paediatric

Gene: SHOC2

Green List (high evidence)
SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 14 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • Expert Review Green
  • Expert List
  • London South GLH
Phenotypes
  • Noonan-like syndrome with loose anagen hair
  • syndromic HCM
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

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHOC2 was added gene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146 Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM 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