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Severe Paediatric Disorders

Gene: NLGN3

Green List (high evidence)

NLGN3 (neuroligin 3)
EnsemblGeneIds (GRCh38): ENSG00000196338
EnsemblGeneIds (GRCh37): ENSG00000196338
OMIM: 300336, Gene2Phenotype
NLGN3 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NLGN3; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Asperger syndrome susceptibility, X-linked 1}, 300494 (3) | {Autism susceptibility, X-linked 1}, 300425 (3); Mode of inheritance: Isolated cases, X-linked, Multifactorial | X-linked
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • {Autism susceptibility, X-linked 1}, 300425
  • {Asperger syndrome susceptibility, X-linked 1}, 300494
OMIM
300336
Clinvar variants
Variants in NLGN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NLGN3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugh