Sudden death in young people
Gene: MT-ND1EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 11 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Green in mitochondrial panel so will be applied in young cases.Created: 19 Dec 2016, 4:31 p.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Removed
- Literature
- Other
- Phenotypes
-
- Sudden infant death syndrome, 272120
- SIDS
- SIDS
- sudden infant death syndrome, 272120,
- Tags
- OMIM
- 516000
- Clinvar variants
- Variants in MT-ND1
- Penetrance
- Complete
- Panels with this gene
-
- Optic neuropathy
- Intellectual disability
- Leber hereditary optic neuropathy
- Undiagnosed metabolic disorders
- Sudden death in young people
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Retinal disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
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-ND1.
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-ND1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: MT-ND1.
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been removed from the panel.
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)MT-ND1 was added to Sudden death in young peoplepanel. Source: Literature Model of inheritance for gene MT-ND1 was changed to MITOCHONDRIAL
Added New Source
Rebecca Foulger (Genomics England curator)MT-ND1 was added to Sudden death in young peoplepanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)MT-ND1 was created by rfoulger