Sudden death in young people
Gene: MT-CYB
MT-CYB (mitochondrially encoded cytochrome b)
EnsemblGeneIds (GRCh38): ENSG00000198727
EnsemblGeneIds (GRCh37): ENSG00000198727
OMIM: 516020, Gene2Phenotype
MT-CYB is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000198727
EnsemblGeneIds (GRCh37): ENSG00000198727
OMIM: 516020, Gene2Phenotype
MT-CYB is in 7 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
- OMIM
- 516020
- Clinvar variants
- Variants in MT-CYB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
18 Oct 2023, Gel status: 0
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
12 Sep 2023, Gel status: 0
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
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
Added New Source
Rebecca Foulger (Genomics England curator)MT-CYB was added to Sudden death in young peoplepanel. Sources: Other
6 Dec 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)MT-CYB was created by rfoulger