Activity
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5 actions
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| Genetic Epilepsy v0.1287 | TBX19 | Zornitza Stark Marked gene: TBX19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1287 | TBX19 | Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1287 | TBX19 | Zornitza Stark Classified gene: TBX19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1287 | TBX19 | Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | TBX19 |
Krithika Murali gene: TBX19 was added gene: TBX19 was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX19 were set to 31998673 Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency - 201400 Review for gene: TBX19 was set to GREEN Added comment: Well-established gene-disease association with congenital isolated ACTH deficiency. Affected individuals can present with seizures in conjunction with hypoglycaemia and cholestasis. Although this gene is not associated with primary epilepsy and is a primary pituitary disorder, early detection and prompt institution of glucocorticoid treatment is vital to lower the risk of recurrent hypoglycemia and uncontrolled epilepsy. As patients can present with seizures, inclusion in this panel may aid timely diagnosis of this rare but treatable disorder. Sources: Expert list, Literature |
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