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Research panel - Severe Paediatric Disorders

Gene: APOPT1

Green List (high evidence)
APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 13 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: COA8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: Autosomal recessive, Mitochondrial
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:11 a.m. | Last Modified: 17 Feb 2020, 10:11 a.m.
Panel Version: 0.7
Created: 17 Feb 2020, 10:11 a.m.
Last Modified: 17 Feb 2020, 10:11 a.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene APOPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene APOPT1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: APOPT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: APOPT1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: APOPT1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: APOPT1

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: APOPT1.

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to APOPT1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to APOPT1. 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: APOPT1 was added gene: APOPT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: APOPT1 was set to