This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: COQ5
COQ5 (coenzyme Q5, methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000110871
EnsemblGeneIds (GRCh37): ENSG00000110871
OMIM: 616359, Gene2Phenotype
COQ5 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000110871
EnsemblGeneIds (GRCh37): ENSG00000110871
OMIM: 616359, Gene2Phenotype
COQ5 is in 7 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Candidate intellectual disability gene suggested by Najmabadi et al., (2011) PMID:19377476 and Grozeva et al, (2015) PMID: 26350204Created: 1 Mar 2018, 2:50 p.m.
This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype.
This gene is currently a possible DD gene in Gene2Phenotype for autosomal recessive intellectual disability Najmabadi et al., (2011) PMID:19377476.Created: 1 Mar 2018, 2:49 p.m.
Details
- Sources
-
- Expert Review Red
- OMIM
- 616359
- Clinvar variants
- Variants in COQ5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Mar 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for COQ5 were set to 19377476; 26350204
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COQ5 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)COQ5 was created by Ellen McDonagh