This Panel is marked as Internal
DEMO Diabetes neonatal onset
Gene: COQ9
COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels
2 reviews
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
Neonatal hyperglycaemia is a rare feature of this disorder.Created: 25 Jan 2019, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: COQ9; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Mitochondrial diabetes and neonatal diabetes.Created: 11 Jan 2019, 4:27 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- NHS GMS
- Phenotypes
-
- Primary Coenzyme Q10 Deficiency
- neonatal hyperglycaemia
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- None
- Panels with this gene
-
- Proteinuric renal disease
- Neonatal diabetes
- Mitochondrial disorders
- Intellectual disability
- DDG2P
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
History Filter Activity
2 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COQ9 was added gene: COQ9 was added to DEMO Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia