Activity
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| Early onset or syndromic epilepsy v6.6 | MAST3 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MAST3. Tag Q2_24_MOI was removed from gene: MAST3. Tag Q2_24_NHS_review was removed from gene: MAST3. |
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| Early onset or syndromic epilepsy v6.6 | MAST3 | Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.5 | MAST3 |
Achchuthan Shanmugasundram Source NHS GMS was added to MAST3. Source Expert Review Green was added to MAST3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v5.10 | MAST3 | Sarah Leigh Tag Q2_24_NHS_review tag was added to gene: MAST3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.10 | MAST3 |
Sarah Leigh changed review comment from: MAST3 variants have been associated with Developmental and epileptic encephalopathy 108 (OMIM:620115). PMID:34185323 reports five de novo missense MAST3 variants in eleven unrelated individuals with developmental and epileptic encephalopathy, with a range of seizure types. Functional studies suggest that the MAST3 variants have a gain-of-function effect. Sources: Literature; to: MAST3 variants have been associated with Developmental and epileptic encephalopathy 108 (OMIM:620115). PMID:34185323 reports five de novo missense MAST3 variants in eleven unrelated individuals with developmental and epileptic encephalopathy, with a range of seizure types. These variants are within the serine-threonine kinases (STK) domain. PMID: 35095415 reports a further four de novo missense MAST3 variants, within the domain of unknown function (DUF). It would appear that the variants within the STK domain are associated with a neurodevelopmental disorder with a epilepsy phenotype, while variants within the DUF domain have a autistic spectrum disorder phenotype (PMID: 35095415) Functional studies suggest that the MAST3 variants have a gain-of-function effect (PMID:34185323; 35095415). |
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| Early onset or syndromic epilepsy v5.10 | MAST3 | Sarah Leigh Publications for gene: MAST3 were set to 34185323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.9 | MAST3 | Sarah Leigh Added comment: Comment on mode of pathogenicity: It would appear that MAST3 variants have a gain-of-function effect (PMID:34185323). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.9 | MAST3 | Sarah Leigh Mode of pathogenicity for gene: MAST3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.8 | MAST3 | Sarah Leigh Classified gene: MAST3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.8 | MAST3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.8 | MAST3 | Sarah Leigh Gene: mast3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.7 | MAST3 |
Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MAST3. Tag Q2_24_MOI tag was added to gene: MAST3. |
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| Early onset or syndromic epilepsy v5.7 | MAST3 |
Sarah Leigh gene: MAST3 was added gene: MAST3 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAST3 were set to 34185323 Mode of pathogenicity for gene: MAST3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MAST3 was set to GREEN Added comment: MAST3 variants have been associated with Developmental and epileptic encephalopathy 108 (OMIM:620115). PMID:34185323 reports five de novo missense MAST3 variants in eleven unrelated individuals with developmental and epileptic encephalopathy, with a range of seizure types. Functional studies suggest that the MAST3 variants have a gain-of-function effect. Sources: Literature |
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