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Severe Paediatric Disorders

Gene: COA6

Green List (high evidence)

COA6 (cytochrome c oxidase assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000168275
EnsemblGeneIds (GRCh37): ENSG00000168275
OMIM: 614772, Gene2Phenotype
COA6 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: COA6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501
OMIM
614772
Clinvar variants
Variants in COA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene COA6 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COA6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to COA6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to COA6. 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: COA6 was added gene: COA6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COA6 was set to