Neonatal diabetes
Gene: COQ2
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
2 reviews
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
Neonatal hyperglycaemia is a rare feature of this disorder.Created: 25 Jan 2019, 1:31 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: COQ2; 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: Isolated 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
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- None
- Panels with this gene
-
- Neonatal diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Retinal disorders
- Mitochondrial disorders
- Fetal anomalies
- Familial dysautonomia
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Possible mitochondrial disorder - nuclear genes
- Proteinuric renal disease
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
28 Jan 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COQ2 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: COQ2 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: COQ2 was added gene: COQ2 was added to Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: COQ2 was set to