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Intellectual disability syndromic and non-syndromic

Gene: NLGN1

Red List (low evidence)

NLGN1 (neuroligin 1)
EnsemblGeneIds (GRCh38): ENSG00000169760
EnsemblGeneIds (GRCh37): ENSG00000169760
OMIM: 600568, Gene2Phenotype
NLGN1 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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
Created: 11 Dec 2019, 10:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
no OMIM number yet

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability
  • autism
  • no OMIM number yet
OMIM
600568
Clinvar variants
Variants in NLGN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlgn1 has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NLGN1 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet

11 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: NLGN1 was added gene: NLGN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLGN1 were set to PMID: 30460678 Phenotypes for gene: NLGN1 were set to no OMIM number yet Review for gene: NLGN1 was set to RED