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Mendeliome v0.296 | NLGN1 | Zornitza Stark Marked gene: NLGN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.296 | NLGN1 | Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.296 | NLGN1 |
Zornitza Stark gene: NLGN1 was added gene: NLGN1 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLGN1 were set to 30460678 Phenotypes for gene: NLGN1 were set to intellectual disability; autism Review for gene: NLGN1 was set to RED Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies. Sources: Literature |