Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: MT-CO1

Green List (high evidence)

MT-CO1 (mitochondrially encoded cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MT-CO1; Recommended initial gene rating: Green List (high evidence); Phenotypes: LEBER OPTIC ATROPHY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;CYTOCHROME c OXIDASE DEFICIENCY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE I DEFICIENCY; Mode of inheritance: NA
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • LEBER OPTIC ATROPHY
  • CYTOCHROME c OXIDASE DEFICIENCY
  • MYOGLOBINURIA, RECURRENT
  • CYTOCHROME c OXIDASE I DEFICIENCY
  • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
OMIM
516030
Clinvar variants
Variants in MT-CO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MT-CO1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; CYTOCHROME c OXIDASE I DEFICIENCY; CYTOCHROME c OXIDASE DEFICIENCY; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT for gene: MT-CO1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MT-CO1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MT-CO1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MT-CO1 was added gene: MT-CO1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL