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| Intellectual disability v5.300 | SEMA6B | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SEMA6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.286 | SEMA6B | Arina Puzriakova reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.286 | SEMA6B |
Arina Puzriakova Source NHS GMS was added to SEMA6B. Source Expert Review Green was added to SEMA6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Classified gene: SEMA6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Gene: sema6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Classified gene: SEMA6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Gene: sema6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SEMA6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Classified gene: SEMA6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.92 | SEMA6B | Achchuthan Shanmugasundram Gene: sema6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.91 | SEMA6B |
Achchuthan Shanmugasundram gene: SEMA6B was added gene: SEMA6B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA6B were set to 35604360 Phenotypes for gene: SEMA6B were set to Intellectual disability, MONDO:0001071 Review for gene: SEMA6B was set to GREEN Added comment: Comment on gene classification: This gene should be rated GREEN in this panel as monoallelic variants in this gene has been associated with a final diagnosis of intellectual disability (ID) in 11 unrelated cases. PMID:35604360 reports 14 heterozygous variants (11 novel and 3 previously reported variants) observed in 16 unrelated individuals referred for ID. Out of these, 11 of them had a final diagnosis of ID. Heterozygous variants in SEMA6B has previously been reported in patients with progressive myoclonic epilepsy (MIM #618876) and there were no cases of ID reported before. This study indicated that the clinical spectrum is wider and included ID without epilepsy or myoclonus. Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function. Sources: Literature |
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