Activity
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5 actions
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| Early onset or syndromic epilepsy v5.20 | ADGRL1 | Achchuthan Shanmugasundram Classified gene: ADGRL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.20 | ADGRL1 | Achchuthan Shanmugasundram Gene: adgrl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.20 | ADGRL1 | Achchuthan Shanmugasundram Classified gene: ADGRL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.20 | ADGRL1 | Achchuthan Shanmugasundram Gene: adgrl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.19 | ADGRL1 |
Achchuthan Shanmugasundram gene: ADGRL1 was added gene: ADGRL1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRL1 were set to 35907405 Phenotypes for gene: ADGRL1 were set to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065 Review for gene: ADGRL1 was set to AMBER Added comment: PMID:35907405 reported the identification of monoallelic ADGRL1 variants in ten individuals with a neurodevelopmental disorder comprising developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy. This includes a case that was previously reported in PMID:30504930. Epilepsy was reported in two of these cases. This gene has been associated with relevant phenotype in OMIM (MIM #620065), but not yet in Gene2Phenotype. Sources: Literature |
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