Mitochondrial disorder with complex IV deficiency

Gene: CEP89

Amber List (moderate evidence)

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

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Implicated in complex IV deficiency; 1 case with deletion of this gene, but no other cases reported.
Created: 10 May 2019, 11:13 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: CEP89; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

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 should be Amber on this panel due to the evidence level; only a single report has been published.
Created: 25 Feb 2019, 5:03 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
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
615470
Clinvar variants
Variants in CEP89
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cep89 has been classified as Amber List (Moderate Evidence).

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cep89 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CEP89 was added gene: CEP89 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP89 were set to 23575228 Phenotypes for gene: CEP89 were set to No OMIM phenotype