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| Mendeliome v1.3479 | BRSK1 | Zornitza Stark Phenotypes for gene: BRSK1 were changed from Epilepsy, MONDO:0005027, BRSK1-related to Neurodevelopmental disorder, MONDO:0700092, BRSK1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3478 | BRSK1 | Zornitza Stark Marked gene: BRSK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3478 | BRSK1 | Zornitza Stark Gene: brsk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3478 | BRSK1 | Zornitza Stark Classified gene: BRSK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3478 | BRSK1 | Zornitza Stark Gene: brsk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3476 | BRSK1 |
Cara Beck gene: BRSK1 was added gene: BRSK1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BRSK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRSK1 were set to 41035394 Phenotypes for gene: BRSK1 were set to Epilepsy, MONDO:0005027, BRSK1-related Review for gene: BRSK1 was set to GREEN Added comment: PMID:41035394 Six novel BRSK1 variants were identified in seven probands. Five cases were de novo, two inherited. One variant was recurrent. All had epilepsy (generalised tonic clonic seizures, absence, focal, spasms), 2/7 GDD, 1/1 'mental developmental delay', 1/7 motor delay, 2/7 normal development. Functional work, including in a mouse model, was consistent with loss of function mechanism and supports pathogenicity of 2 frameshift, 1 nonsense, 1 missense variant, with 2 missense not yet considered pathogenic. Sources: Literature |
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