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| Mendeliome v1.2943 | TRIM74 | Zornitza Stark Marked gene: TRIM74 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2943 | TRIM74 | Zornitza Stark Gene: trim74 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2943 | TRIM74 | Zornitza Stark Classified gene: TRIM74 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2943 | TRIM74 | Zornitza Stark Gene: trim74 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2936 | TRIM74 |
Sangavi Sivagnanasundram gene: TRIM74 was added gene: TRIM74 was added to Mendeliome. Sources: Other Mode of inheritance for gene: TRIM74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM74 were set to 40735933 Phenotypes for gene: TRIM74 were set to Neurodevelopmental disorder, TRIM74-related, MONDO:0700092 Review for gene: TRIM74 was set to RED Added comment: Only one reported case with supportive functional assay PMID: 40735933 5yr M presenting from non consanguineous parents with global developmental delay, hypotonia, seizures, and diffuse cerebral atrophy with mega cisterna magna. Parents of the proband were found to be carriers of the variant. Homozygous variant c.562C > T (p.Pro121Leu) - NFE AF 0.0188% - rare enough for AR Supportive functional analysis on human fibroblast showed protein function disruption leading to protein aggregation, proteostasis collapse, and cell death. Sources: Other |
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