Sudden death in young people

Gene: MT-CYB

No list

MT-CYB (mitochondrially encoded cytochrome b)
EnsemblGeneIds (GRCh38): ENSG00000198727
EnsemblGeneIds (GRCh37): ENSG00000198727
OMIM: 516020, Gene2Phenotype
MT-CYB is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Changed rating from red to grey: Histiocytoid cardiomyopathy is a cause of sudden death but mutations in this gene have ony been reported in one case: An infant girl who died of cardiac arrest at the age of 4 weeks and was found to have typical pathologic features of histiocytoid cardiomyopathy, Andreu et al. (2000, PMID:10960495) identified a point mutation in the MT-CYB gene, a G-to-A transition at nucleotide 15498, resulting in a gly251-to-asp substitution.
Created: 6 Dec 2016, 4:34 p.m.

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • cardiomyopathy infantile histiocytoid, 500000
  • infantile cardiomyopathy with histiocytoid change
  • cardiac arrest
Tags
curated_removed
OMIM
516020
Clinvar variants
Variants in MT-CYB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: MT-CYB.

19 Dec 2016, Gel status: 0

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

6 Dec 2016, Gel status: 0

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been removed from the panel.

6 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MT-CYB was created by rfoulger

6 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MT-CYB was added to Sudden death in young peoplepanel. Sources: Other