Activity
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9 actions
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| Intellectual disability v10.94 | EIF1AX | Achchuthan Shanmugasundram Classified gene: EIF1AX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.94 | EIF1AX | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julia Baptista, there is sufficient evidence available (four unrelated cases) for the association of EIF1AX with intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.94 | EIF1AX | Achchuthan Shanmugasundram Gene: eif1ax has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.93 | EIF1AX |
Achchuthan Shanmugasundram Tag Q3_26_NHS_review tag was added to gene: EIF1AX. Tag Q3_26_promote_green tag was added to gene: EIF1AX. |
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| Intellectual disability v10.93 | EIF1AX | Achchuthan Shanmugasundram Publications for gene: EIF1AX were set to PMID: 42337333 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.92 | EIF1AX | Achchuthan Shanmugasundram Phenotypes for gene: EIF1AX were changed from intellectual disability to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.91 | EIF1AX | Achchuthan Shanmugasundram Mode of inheritance for gene: EIF1AX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.90 | EIF1AX | Achchuthan Shanmugasundram reviewed gene: EIF1AX: Rating: GREEN; Mode of pathogenicity: None; Publications: 42337333; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.85 | EIF1AX |
Julia Baptista gene: EIF1AX was added gene: EIF1AX was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF1AX were set to PMID: 42337333 Phenotypes for gene: EIF1AX were set to intellectual disability Review for gene: EIF1AX was set to GREEN Added comment: PMID: 42337333- describes four de novo hemizygous EIF1AX variants (comprising three missense and one splice variant) in four male individuals exhibiting variable neurodevelopmental disorders, including developmental and language delays, autistic behavioral problems, and facial dysmorphisms. Functional studies using Drosophila models supported a LOF effect for (Lys64Glu) and p.(Asp90Gly) whilst no significant effect was seen for p.(Asn17Asp). Minigene analysis for the c.204 G > C showed aberrant mRNA splicing and a LOF allele. Sources: Literature |
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