Mitochondrial disorders
Gene: APOPT1

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

3 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: 1.291

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: 0.329

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Isolated complex IV deficiency

Tags

new-gene-name

OMIM

616003

Clinvar variants

Variants in APOPT1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

7 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to APOPT1. Panel: Mitochondrial disorders

26 Feb 2016, Gel status: 4