Neonatal diabetes
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
- Phenotypes
-
- neonatal hyperglycaemia
- Primary Coenzyme Q10 Deficiency
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Neonatal diabetes
History Filter Activity
28 Jan 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COQ9 were changed from to neonatal hyperglycaemia; Primary Coenzyme Q10 Deficiency
28 Jan 2019, Gel status: 1
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
11 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: COQ9 was added gene: COQ9 was added to Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: COQ9 was set to