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Intellectual disability update Jan 2018

Gene: COX14

Red List (low evidence)
COX14 (COX14, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000178449
EnsemblGeneIds (GRCh37): ENSG00000178449
OMIM: 614478, Gene2Phenotype
COX14 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and as a possible G2P gene. At least 1 homozygous variant reported in 3 siblings of a consanguineous family, they each presented with a COX-assembly defect and died within hours of birth, hence could not be assessed for intellectual disability (PMID 22243966)
Created: 1 Mar 2018, 3:35 p.m.
Created: 1 Mar 2018, 3:35 p.m.

Panel version: 0.242

History Filter Activity

1 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COX14 were set to 22243966

1 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COX14 were set to ?Mitochondrial complex IV deficiency 220110

1 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COX14 were set to ?Mitochondrial complex IV deficiency 220110

1 Mar 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for COX14 was changed from to MITOCHONDRIAL

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COX14 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

COX14 was created by Ellen McDonagh