Activity
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12 actions
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| Mendeliome v1.2263 | TAOK2 | Zornitza Stark Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation; autism to neurodevelopmental disorder, MONDO:0700092, TAOK2-related; Generalized verrucosis; abnormal T cell activation; autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2262 | TAOK2 | Zornitza Stark Publications for gene: TAOK2 were set to 28385331; 29467497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2261 | TAOK2 | Zornitza Stark Classified gene: TAOK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2261 | TAOK2 | Zornitza Stark Gene: taok2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2238 | TAOK2 | Achchuthan Shanmugasundram reviewed gene: TAOK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39737487; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6765 | TAOK2 | Bryony Thompson Marked gene: TAOK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6765 | TAOK2 | Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6765 | TAOK2 | Bryony Thompson edited their review of gene: TAOK2: Changed phenotypes: Generalized verrucosis, abnormal T cell activation, autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6765 | TAOK2 | Bryony Thompson Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Generalized verrucosis; abnormal T cell activation; autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6764 | TAOK2 | Bryony Thompson Classified gene: TAOK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6764 | TAOK2 | Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6763 | TAOK2 |
Bryony Thompson gene: TAOK2 was added gene: TAOK2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TAOK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TAOK2 were set to 28385331; 29467497 Phenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation Review for gene: TAOK2 was set to AMBER Added comment: PMID: 28385331 - A single consanguineous family with generalized verrucosis and abnormal T cell activation, and a homozygous missense (p.R700C), with some assays on patient fibroblasts. PMID: 29467497 - One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling. Sources: Literature |
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