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  3. APOPT1
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Paediatric or syndromic cardiomyopathy

Gene: APOPT1

Red List (low evidence)
APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 12 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8
Created: 7 May 2019, 1:40 p.m.
Created: 7 May 2019, 1:40 p.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version 0.30

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: APOPT1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, 220110

Created: 1 Feb 2019, 4:34 p.m.

Panel version: 0.16

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM and G2P.
Created: 26 Feb 2016, 12:15 p.m.
Comment on list classification: Green review and confirmed DD gene.
Created: 26 Feb 2016, 12:15 p.m.
Created: 26 Feb 2016, 12:15 p.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0.329

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

7 Jun 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061

2 Dec 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to APOPT1. Rating Changed from Green List (high evidence) to Red List (low evidence)

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: APOPT1 was added gene: APOPT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110