Hypertrophic cardiomyopathy - teen and adult

Gene: SCO2

Red List (low evidence)

SCO2 (SCO2, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 16 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (604377); Myopia 6 (608908)
Created: 25 Mar 2019, 4:30 p.m.
BGL - No variants detected: https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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 SCO2. Mode of inheritance for gene SCO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCO2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list