Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: C2orf69EnsemblGeneIds (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, 6:56 p.m. | Last Modified: 16 Oct 2023, 7:06 p.m.
Panel Version: 4.50
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:54 p.m. | Last Modified: 11 Oct 2023, 12:54 p.m.
Panel Version: 4.37
Comment on list classification: New gene added to this panel by Boaz Palterer (University of Florence). 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, 11:05 a.m. | Last Modified: 18 Apr 2023, 11:05 a.m.
Panel Version: 4.6
Boaz Palterer (University of Florence)
Lausberg et al. dentified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals from 5 kindreds with biallelic C2orf69 variants, presenting with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation.
Wong et al. described 20 subjects from 5 kindreds with biallelic variants and a similar phenotype.
Sources: LiteratureCreated: 6 Jul 2022, 12:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
- Tags
- Clinvar variants
- Variants in C2orf69
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: C2orf69.
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green 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
Arina Puzriakova (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: C2orf69.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: c2orf69 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: C2orf69 were changed from hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Boaz Palterer (University of Florence)gene: C2orf69 was added gene: C2orf69 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 33945503; 34038740 Phenotypes for gene: C2orf69 were set to hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy Penetrance for gene: C2orf69 were set to unknown Review for gene: C2orf69 was set to GREEN