| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autism v0.188 | NLGN4X | Elena Savva commented on gene: NLGN4X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.188 | NLGN4X | Elena Savva Classified gene: NLGN4X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.188 | NLGN4X | Elena Savva Gene: nlgn4x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.187 | NLGN4X | Zornitza Stark Marked gene: NLGN4X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.187 | NLGN4X | Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.187 | NLGN4X | Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.187 | NLGN4X | Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.186 | NLGN4X | Zornitza Stark reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.186 | NLGN4X |
Krithika Murali gene: NLGN4X was added gene: NLGN4X was added to Autism. Sources: Expert list Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NLGN4X were set to PMID:26350204; PMID:14963808; PMID:12669065; PMID:23352163; PMID:28263302; PMID:16648374 Phenotypes for gene: NLGN4X were set to Intellectual developmental disorder, X-linked - MIM#300495 Review for gene: NLGN4X was set to GREEN Added comment: ClinGen ID/Autism GCEP 1/8/2018: Definitive association. Decision was made to lump into X-linked complex neurodevelopmental disorder encompassing autism spectrum disorders, intellectual disability, attention deficit hyperactivity disorder (ADHD), and/or cerebral palsy phenotypes. Clinvar P/LP SNV's identified through clinical testing entries reviewed: c.1747C>T (p.Arg583Trp) - dev delay, ASD, ADHD, cardiac defects, dysmorphism c.625+1G>A - no disease assertion provided (2022 entry) c.334dup (p.Gln112fs) - no clinical information c.301C>T (p.Arg101Ter) - 3 entries - x1 ASD susceptibility disease assertion - reported in an individual with BCS1L variant also who had short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder. Decipher - LP c.456C>G; p.Tyr152Ter - Cited in the literature PMID 26350204 - male XY with ID. Sources: Expert list |
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