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| Intellectual disability syndromic and non-syndromic v0.4027 | TRIM8 | Zornitza Stark Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures; FSGS to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; FSGS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4026 | TRIM8 | Zornitza Stark edited their review of gene: TRIM8: Changed phenotypes: Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428, Intellectual disability, Seizures, FSGS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3430 | TRIM8 | Zornitza Stark Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures to Intellectual disability; Seizures; FSGS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3429 | TRIM8 | Zornitza Stark Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3428 | TRIM8 | Zornitza Stark edited their review of gene: TRIM8: Added comment: Further 10 families reported.; Changed publications: 30244534, 27346735, 23934111, 33508234; Changed phenotypes: Intellectual disability, Seizures, FSGS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2334 | TRIM8 |
Zornitza Stark changed review comment from: Six unrelated individuals reported. Sources: Expert list; to: Six unrelated individuals reported. All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.2334 | TRIM8 | Zornitza Stark Marked gene: TRIM8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2334 | TRIM8 | Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2334 | TRIM8 | Zornitza Stark Classified gene: TRIM8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2334 | TRIM8 | Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2333 | TRIM8 |
Zornitza Stark gene: TRIM8 was added gene: TRIM8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111 Phenotypes for gene: TRIM8 were set to Intellectual disability; Seizures Review for gene: TRIM8 was set to GREEN gene: TRIM8 was marked as current diagnostic Added comment: Six unrelated individuals reported. Sources: Expert list |
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