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Mackenzie's Mission_Reproductive Carrier Screening

Gene: APOPT1

Green List (high evidence)

APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

New HGNC approved name is COA8.
Created: 9 Jun 2021, 8:18 a.m. | Last Modified: 9 Jun 2021, 8:18 a.m.
Panel Version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex IV deficiency, 220110 (3)
Tags
new gene name
OMIM
616003
Clinvar variants
Variants in APOPT1
Penetrance
None
Panels with this gene

History Filter Activity

9 Jun 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APOPT1 was added gene: APOPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,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 (3)