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  2. Likely inborn error of metabolism
  3. APOPT1
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Likely inborn error of metabolism

Gene: APOPT1

Green List (high evidence)
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: 1.54

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 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 disorders panel version 0.37

History Filter Activity

7 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency 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.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: APOPT1 was added gene: APOPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green 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; Isolated complex IV deficiency