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Intellectual disability

Gene: C2orf69

Green List (high evidence)
C2orf69 (chromosome 2 open reading frame 69)
EnsemblGeneIds (GRCh38): ENSG00000178074
EnsemblGeneIds (GRCh37): ENSG00000178074
C2orf69 is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

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, 6:58 p.m. | Last Modified: 16 Oct 2023, 7:07 p.m.
Panel Version: 5.313
Created: 16 Oct 2023, 6:58 p.m.
Last Modified: 16 Oct 2023, 7:07 p.m.
Panel version: 5.313

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 18 Apr 2023, 11:06 a.m.
Last Modified: 18 Apr 2023, 11:06 a.m.
Copied from panel: Mitochondrial disorders v4.27

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 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

Created: 7 Aug 2021, 1:46 a.m.

Copied from panel: Mitochondrial disorders v4.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
gene-checked
Clinvar variants
Variants in C2orf69
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: C2orf69.

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: C2orf69.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to C2orf69. Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Apr 2023, Gel status: 2

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 Intellectual disability - microarray and sequencing. 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