Hypertrophic cardiomyopathy - teen and adult

Gene: SHOC2

Red List (low evidence)

SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 16 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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)

I don't know

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