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| Mendeliome v2.0 | NLGN1 | Gene migrated from ENSG00000169760 to ENSG00000169760 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4981 | NLGN1 | Zornitza Stark Phenotypes for gene: NLGN1 were changed from intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092; autism, susceptibility to, 20, MONDO:0030004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4980 | NLGN1 | Zornitza Stark Publications for gene: NLGN1 were set to 30460678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4979 | NLGN1 | Zornitza Stark Mode of inheritance for gene: NLGN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4978 | NLGN1 | Zornitza Stark Classified gene: NLGN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4978 | NLGN1 | Zornitza Stark Gene: nlgn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4977 | NLGN1 |
Zornitza Stark edited their review of gene: NLGN1: Added comment: PMID 28841651 adds five unrelated families with heterozygous missense NLGN1 variants causing autism; functional assays demonstrate loss‑of‑function and a P89L knock‑in mouse recapitulates social deficits. PMID 38739110 adds two families (one de novo) with a neurodevelopmental disorder including intellectual disability, autism and epilepsy harbouring missense NLGN1 variants. At least one of the variants reported has a relatively high population frequency, not consistent with a monogenic disorder (e.g. p.Thr90Ile with 162 hets).; Changed rating: AMBER; Changed publications: 38739110, 28841651; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, autism, susceptibility to, 20, MONDO:0030004; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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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 |
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