Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.48 | TAOK2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Nour Elkhateeb, PMID:39737487 reported 10 individuals with monoallelic TAOK2 variants and with a neurodevelopmemntal disorder. Four of these patients were reported with global developmental delay and eight were reported with intellectual disability/ learning difficulties. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Nour Elkhateeb, PMID:39737487 reported 10 individuals with monoallelic TAOK2 variants and with a neurodevelopmental disorder. Four of these patients were reported with global developmental delay and eight were reported with intellectual disability/ learning difficulties. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.48 | TAOK2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TAOK2. Tag Q1_25_ promote_green tag was added to gene: TAOK2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.48 | TAOK2 | Achchuthan Shanmugasundram Classified gene: TAOK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.48 | TAOK2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, PMID:39737487 reported 10 individuals with monoallelic TAOK2 variants and with a neurodevelopmemntal disorder. Four of these patients were reported with global developmental delay and eight were reported with intellectual disability/ learning difficulties. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.48 | TAOK2 | Achchuthan Shanmugasundram Gene: taok2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.47 | TAOK2 | Achchuthan Shanmugasundram Phenotypes for gene: TAOK2 were changed from Developmental delay; Intellectual disability; Speech and language delay; Autism spectrum disorder to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.47 | TAOK2 | Achchuthan Shanmugasundram Publications for gene: TAOK2 were set to PMID: 39737487; 29467497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.46 | TAOK2 | Achchuthan Shanmugasundram reviewed gene: TAOK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39737487; Phenotypes: neuronevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.45 | TAOK2 |
Nour Elkhateeb gene: TAOK2 was added gene: TAOK2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK2 were set to PMID: 39737487; 29467497 Phenotypes for gene: TAOK2 were set to Developmental delay; Intellectual disability; Speech and language delay; Autism spectrum disorder Review for gene: TAOK2 was set to GREEN Added comment: Recent study PMID: 39737487 reporting 10 individuals with varying degrees of Developmental delay, Intellectual disability, Speech and language delay and Autism spectrum disorder as well as other features such as obesity, tall stature and macrocephaly. These individuals had heterozygous missense and truncating TAOK2 variants. PMID: 29467497 reported individuals with autism and heterozygous missense and truncating TAOK2 variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||