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Intellectual disability

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

3 reviews

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.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MITOCHONDRIAL COMPLEX IV DEFICIENCY

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene COX14 was set to MITOCHONDRIAL Publications for gene COX14 was set to ['22243966']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COX14 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COX14 was created by ellenmcdonagh