Activity
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11 actions
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| Intellectual disability v8.130 | HDAC3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HDAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | HDAC3 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: HDAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | HDAC3 | Sarah Leigh reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | HDAC3 |
Sarah Leigh Source NHS GMS was added to HDAC3. Source Expert Review Green was added to HDAC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v7.9 | HDAC3 | Achchuthan Shanmugasundram Classified gene: HDAC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.9 | HDAC3 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39047730 reported the identification of de novo missense variants in HDAC3 gene in six unrelated individuals with neurodevelopmental disorder. Intellectual disability of varying severity was present in five of six patients (severe and moderate ID in two each and mild ID in one). This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. This gene should be promoted to green rating in the next GMS update. |
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| Intellectual disability v7.9 | HDAC3 | Achchuthan Shanmugasundram Gene: hdac3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.8 | HDAC3 | Achchuthan Shanmugasundram Phenotypes for gene: HDAC3 were changed from Neurodevelopmental disorder, MONDO:0700092, HDAC3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | HDAC3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HDAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | HDAC3 | Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39047730; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | HDAC3 |
Zornitza Stark gene: HDAC3 was added gene: HDAC3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC3 were set to 39047730 Phenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Added comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data. Sources: Literature |
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