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  3. COX14
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Cardiomyopathy_Paediatric

Gene: COX14

Amber List (moderate evidence)
COX14 (COX14, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000178449
EnsemblGeneIds (GRCh37): ENSG00000178449
OMIM: 614478, Gene2Phenotype
COX14 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family with multiple affecteds described.
Created: 25 Oct 2020, 8:48 a.m. | Last Modified: 25 Oct 2020, 8:48 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053

Publications

Created: 25 Oct 2020, 8:48 a.m.
Last Modified: 25 Oct 2020, 8:48 a.m.
Panel version: 0.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
OMIM
614478
Clinvar variants
Variants in COX14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox14 has been classified as Amber List (Moderate Evidence).

25 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053

25 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX14 were set to

25 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox14 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX14 was added gene: COX14 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110