Activity
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| Early onset or syndromic epilepsy v7.39 | PI4K2A |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: PI4K2A. Tag Q3_24_NHS_review was removed from gene: PI4K2A. |
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| Early onset or syndromic epilepsy v7.39 | PI4K2A | Sarah Leigh reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.38 | PI4K2A |
Sarah Leigh Source Expert Review Green was added to PI4K2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v7.3 | PI4K2A | Achchuthan Shanmugasundram Classified gene: PI4K2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.3 | PI4K2A | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with a neurodevelopmental disorder. Of these, epilepsy was present in three unrelated cases. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.3 | PI4K2A | Achchuthan Shanmugasundram Gene: pi4k2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.2 | PI4K2A | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.2 | PI4K2A | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with global developmental delay and/ or profound intellectual disability. Hence, this gene should be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with a neurodevelopmental disorder . Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.2 | PI4K2A | Achchuthan Shanmugasundram Entity copied from Intellectual disability v8.13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.2 | PI4K2A |
Achchuthan Shanmugasundram gene: PI4K2A was added gene: PI4K2A was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,NHS GMS Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: PI4K2A. Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4K2A were set to 30564627; 32418222; 35880319 Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 Penetrance for gene: PI4K2A were set to unknown |
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