Non-syndromic familial congenital anorectal malformations
Gene: INTU
INTU (inturned planar cell polarity protein)
EnsemblGeneIds (GRCh38): ENSG00000164066
EnsemblGeneIds (GRCh37): ENSG00000164066
OMIM: 610621, Gene2Phenotype
INTU is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000164066
EnsemblGeneIds (GRCh37): ENSG00000164066
OMIM: 610621, Gene2Phenotype
INTU is in 5 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Added phenotype from publication PMID:23936318Created: 14 Aug 2018, 3:53 p.m.
Gene added to the panel a listed as a candidate gene inWong 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)). In this earlier paper 2 ARM patients (one with with Down syndrome) were identified 34.4 kb heterozygous deletion spanning exon 5 to exon 8 of INTU.Created: 4 Aug 2018, 9:43 p.m.
Details
- Sources
-
- Literature
- Phenotypes
-
- anorectal malformation
- OMIM
- 610621
- Clinvar variants
- Variants in INTU
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Gene added to the panel a list
14 Aug 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: INTU were set to anorectal malformation
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)INTU was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)INTU was created by Eleanor Williams