Mitochondrial disorders
Gene: CEP89
CEP89 (centrosomal protein 89)
EnsemblGeneIds (GRCh38): ENSG00000121289
EnsemblGeneIds (GRCh37): ENSG00000121289
OMIM: 615470, Gene2Phenotype
CEP89 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000121289
EnsemblGeneIds (GRCh37): ENSG00000121289
OMIM: 615470, Gene2Phenotype
CEP89 is in 4 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene only has a single published report.Created: 25 Feb 2019, 5:05 p.m.
Comment on publications: PMID: 23575228Created: 15 Feb 2016, 10:59 a.m.
Comment on list classification: Added by reviewer who states there has been a single mutation report in the literature, therefore this should be added as a red gene until more evidence arises.Created: 15 Feb 2016, 10:58 a.m.
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 7 Feb 2016, 8:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- isolated complex IV deficiency, intellectual disability and multisystemic problems
- OMIM
- 615470
- Clinvar variants
- Variants in CEP89
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
30 Apr 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CEP89 were set to PMID: 23575228
25 Feb 2019, Gel status: 1
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cep89 has been classified as Red List (Low Evidence).
28 Aug 2018, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to CEP89. Panel: Mitochondrial disorders
15 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Feb 2016, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CEP89 were set to PMID: 23575228
15 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 Feb 2016, Gel status: 0
Added New Source
Shamima Rahman (UCL Institute of Child Health)CEP89 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
7 Feb 2016, Gel status: 0
Created
Shamima Rahman (UCL Institute of Child Health)CEP89 was created by [email protected]