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| Genetic Epilepsy v0.1916 | GABBR1 | Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1694 | GABBR1 | Zornitza Stark Classified gene: GABBR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1694 | GABBR1 | Zornitza Stark Gene: gabbr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1693 | GABBR1 |
Karina Sandoval edited their review of gene: GABBR1: Added comment: GABBR1 should be Red for Genetic Epilepsy panel as only 1 patient out of the 4 presented with seizures. In addition PMID:36103875 stated it was surprising another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.; Changed rating: RED |
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| Genetic Epilepsy v0.1693 | GABBR1 |
Karina Sandoval changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy. Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders. 4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. ; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy. Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders. Functional analyses reveal that all four variants produce dysfunctional receptors, supporting that these de novo variants are pathogenic. 4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. |
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| Genetic Epilepsy v0.1693 | GABBR1 |
Karina Sandoval changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy. Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy. Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders. 4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. |
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| Genetic Epilepsy v0.1688 | GABBR1 | Zornitza Stark Classified gene: GABBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1688 | GABBR1 | Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1687 | GABBR1 | Zornitza Stark Marked gene: GABBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1687 | GABBR1 | Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1687 | GABBR1 | Zornitza Stark Classified gene: GABBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1687 | GABBR1 | Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1684 | GABBR1 | Karina Sandoval reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36103875; Phenotypes: Neurodevelopmental disorder, GABBR1-related, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1684 | GABBR1 |
Karina Sandoval gene: GABBR1 was added gene: GABBR1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR1 were set to PMID:36103875 Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 |
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