Non-syndromic familial congenital anorectal malformations
Gene: NLGN1EnsemblGeneIds (GRCh38): ENSG00000169760
EnsemblGeneIds (GRCh37): ENSG00000169760
OMIM: 600568, Gene2Phenotype
NLGN1 is in 1 panel
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Phenotype added from publication PMID:23936318Created: 14 Aug 2018, 3:56 p.m.
Gene added to the panel a listed as a candidate gene in Wong et al 2013 (PMID:23936318) who performed a gene network analysis using genes identified in CNVs in an earlier paper (Wong et al 2013 (PMID: 23108157)).Created: 4 Aug 2018, 9:45 p.m.
Details
- Sources
-
- Literature
- Phenotypes
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- anorectal malformation
- OMIM
- 600568
- Clinvar variants
- Variants in NLGN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Gene added to the panel a list
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NLGN1 were set to anorectal malformation
Added New Source
Eleanor Williams (Genomics England Curator)NLGN1 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
Created
Eleanor Williams (Genomics England Curator)NLGN1 was created by Eleanor Williams