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| COVID-19 research v1.57 | TRIM69 | Sarah Leigh Classified gene: TRIM69 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.57 | TRIM69 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PMID 22105173 reports three TRIM69 variants in three cases who had had herpes simplex encephalitis during childhood. Evidence for was strong for the homozygous p.R141*, but less so for the heterozygous p.S186L, which functional studies showed was hypomorphic and not a complete loss-of-function allele, possibly explaining variable penetrance in other carriers. The third variant p.P625L was not supported by functional studies and was also present in the unaffected father of the proband. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.57 | TRIM69 | Sarah Leigh Gene: trim69 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.23 | TRIM69 |
Zornitza Stark gene: TRIM69 was added gene: TRIM69 was added to COVID-19 research. Sources: Expert list Mode of inheritance for gene: TRIM69 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TRIM69 were set to 22105173 Phenotypes for gene: TRIM69 were set to Susceptibility to herpes simplex encephalitis Review for gene: TRIM69 was set to RED Added comment: One individual with bi-allelic and one individual with mono-allelic variants in this gene described. Sources: Expert list |
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