Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: C2orf69The 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
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
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
Tag gene-checked tag was added to gene: C2orf69.
Tag Q2_23_promote_green was removed from gene: C2orf69.
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)
Tag Q2_23_promote_green tag was added to gene: C2orf69.
Gene: c2orf69 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: C2orf69 were changed from hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy to Combined oxidative phosphorylation deficiency 53, OMIM:619423
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