Possible mitochondrial disorder - nuclear genes
Gene: C2orf69EnsemblGeneIds (GRCh38): ENSG00000178074
EnsemblGeneIds (GRCh37): ENSG00000178074
C2orf69 is in 8 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.
Panel Version: 3.113
The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.Created: 16 Oct 2023, 6:57 p.m. | Last Modified: 16 Oct 2023, 7:06 p.m.
Panel Version: 3.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Carl Fratter (Oxford University Hospitals NHS Trust)
Consensus opinion from the 3 specialist mitochondrial providers.Created: 31 Jul 2023, 9:57 a.m. | Last Modified: 31 Jul 2023, 9:57 a.m.
Panel Version: 3.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
619423 Combined oxidative phosphorylation deficiency 53
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). Associated with a relevant phenotype in OMIM (MIM# 619423) but is not yet listed in G2P. At least 13 unrelated families reported in literature (PMIDs: 33945503; 34038740). Sufficient cases plus zebrafish model to promote this gene to green at the next GMS panel update.Created: 18 Apr 2023, 11:06 a.m. | Last Modified: 18 Apr 2023, 11:06 a.m.
Panel Version: 4.27
Zornitza Stark (Australian Genomics)
PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.
PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: LiteratureCreated: 7 Aug 2021, 1:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
- combined oxidative phosphorylation deficiency 53, MONDO:0030378
- Tags
- Clinvar variants
- Variants in C2orf69
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Fetal anomalies
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: C2orf69. Tag Q3_23_NHS_review was removed from gene: C2orf69.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to C2orf69. Source NHS GMS was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: C2orf69.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: C2orf69 were changed from Combined oxidative phosphorylation deficiency 53, OMIM:619423 to Combined oxidative phosphorylation deficiency 53, OMIM:619423; combined oxidative phosphorylation deficiency 53, MONDO:0030378
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_NHS_review tag was added to gene: C2orf69.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: C2orf69 was added gene: C2orf69 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: C2orf69. Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 34038740; 33945503 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423