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| Mendeliome v2.69 | NLGN2 | Zornitza Stark Marked gene: NLGN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.69 | NLGN2 | Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.69 | NLGN2 | Zornitza Stark Classified gene: NLGN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.69 | NLGN2 | Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.68 | NLGN2 |
Zornitza Stark gene: NLGN2 was added gene: NLGN2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233 Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related Review for gene: NLGN2 was set to AMBER Added comment: PMID 27865048, PMID 32405903 and PMID 37506563 report three individuals from three unrelated families with de novo heterozygous variants in NLGN2 (two missense, one LoF) presenting with a neurodevelopmental disorder characterised by autism spectrum disorder, intellectual disability, anxiety, hyperphagia, obesity, catatonia and epilepsy (febrile and atypical absence seizures). Supportive animal model in PMID 22820233: Nlgn2(-/-) mice displayed normal social behaviors, concomitant with reduced exploratory activity, impaired rotarod performance, and delays on several developmental milestones. No spontaneous stereotypies or repetitive behaviors were detected. Acoustic, tactile, and olfactory sensory information processing as well as sensorimotor gating were not affected. Overall, mild impairments. Sources: Literature |
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