Hypertrophic cardiomyopathy
Gene: SCO2Comment on mode of inheritance: Hypertrophic cardiomyopathy is part of the overall OMIM phenotype of Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377), which is an autosomal recessive disorder. As autosomal dominant variants cause Myopia 6 (MIM #608908), the MOI should be changed to 'BIALLELIC, autosomal or pseudoautosomal'.Created: 3 Mar 2023, 4:07 p.m. | Last Modified: 3 Mar 2023, 4:07 p.m.
Panel Version: 3.4
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
Mode of inheritance for gene: SCO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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
SCO2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list