Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: CEP89

Red List (low evidence)

CEP89 (centrosomal protein 89)
EnsemblGeneIds (GRCh38): ENSG00000121289
EnsemblGeneIds (GRCh37): ENSG00000121289
OMIM: 615470, Gene2Phenotype
CEP89 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

No further variants have been reported in the literature to date (30/09/2019).
Created: 30 Sep 2019, 10:07 a.m. | Last Modified: 30 Sep 2019, 10:07 a.m.
Panel Version: 1.317

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: 23575228
Created: 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)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • isolated complex IV deficiency, intellectual disability and multisystemic problems
OMIM
615470
Clinvar variants
Variants in CEP89
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CEP89 was added gene: CEP89 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP89 were set to PMID: 23575228 Phenotypes for gene: CEP89 were set to isolated complex IV deficiency, intellectual disability and multisystemic problems