COVID-19 research
Gene: CPT2
CPT2 was identified through an OMIM search for potential viral susceptibility genes. Initial triage by Illumina (Alison Coffey and team) was given a Tier 1 grouping (clear GDA/viral susceptibility). "Illumina review: Evidence suggests that susceptibility to infection-induced acute encephalopathy-4 (IIAE4) is conferred by heterozygous or homozygous variation in the CPT2 gene on chromosome 1p32. PMID:20934285: Shinohara et al. (2011) - found 352C variant at a significantly higher frequency in 29 Japanese patients with IIAE compared to controls. Pathogens included influenza, adenovirus, HHV6. mycoplasma and rotovirus. No correlation between good and poor prognosis. PMID: 21697855: Mak et al. (2011) - Showed heterozygosity for the CPT2 F352C variant and homozygosity for the CPT2 V368I variant in two unrelated Chinese individuals with fatal virally-induced acute encephalopathy. PMID: 15811315: Chen et al. (2005) - thermolabile phenotype of compound heterozygotes for F352C and V368I which showed a higher frequency in Japanese influenza-associated encephalopathy patients than healthy volunteers. PMID 18306170: Yao et al. (2008) - large proportion of patients suffering from disabling or fatal IAE, with transiently elevated serum acylcarnitine during high fever, exhibit a thermolabile phenotype of compound homozygous/heterozygous variants in CPT2. Among the variants, three compound variations found in patients with severe encephalopathy; [c.1055T>G (p.Phe352Cys); c.1102G>A (p.Val368Ile)], [c.1511C>T (p.Pro504Leu); c.1813G>C (p.Val605Leu)], and [c.1055T>G (p.Phe352Cys); c.1102G>A (p.Val368Ile); c.1813G>C (p.Val605Leu)], showed reduced activities, thermal instability, and short half-lives compared with the wild type.
Created: 11 Jun 2020, 6:10 p.m. | Last Modified: 12 Jun 2020, 10:13 a.m.
Panel Version: 1.19
Two variants (rs2229291, rs1799821) associated with susceptibility to infection-induced acute encephalopathy-4.Created: 4 May 2020, 3:17 p.m. | Last Modified: 4 May 2020, 3:17 p.m.
Panel Version: 0.176
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212
Publications
Gene: cpt2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CPT2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were changed from to {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212
Publications for gene: CPT2 were set to
gene: CPT2 was added gene: CPT2 was added to Viral susceptibility. Sources: OMIM Mode of inheritance for gene: CPT2 was set to