Activity
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| Intellectual disability v6.65 | GABBR1 | Achchuthan Shanmugasundram Classified gene: GABBR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.65 | GABBR1 | Achchuthan Shanmugasundram Gene: gabbr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.64 | GABBR1 |
Achchuthan Shanmugasundram gene: GABBR1 was added gene: GABBR1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502 Review for gene: GABBR1 was set to AMBER Added comment: PMID:36103875 reported the identification of monoallelic de novo variants in four unrelated individuals presenting with motor and/or language delay, ranging from mild to severe, and in one case, epilepsy. Intellectual disability was present in two of four individuals, whereas ID was not documented in one patient. This gene has been associated with relevant phenotypes in OMIM (MIM #620502) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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