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Severe Paediatric Disorders

Gene: MT-CO3

Green List (high evidence)

MT-CO3 (mitochondrially encoded cytochrome c oxidase III)
EnsemblGeneIds (GRCh38): ENSG00000198938
EnsemblGeneIds (GRCh37): ENSG00000198938
OMIM: 516050, Gene2Phenotype
MT-CO3 is in 8 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-CO3; Recommended initial gene rating: Green List (high evidence); Phenotypes: LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX IV DEFICIENCY; SEIZURES AND LACTIC ACIDOSIS; 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
  • SEIZURES AND LACTIC ACIDOSIS
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM
516050
Clinvar variants
Variants in MT-CO3
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-CO3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes SEIZURES AND LACTIC ACIDOSIS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MT-CO3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MT-CO3. 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-CO3 was added gene: MT-CO3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL