Non-syndromic familial congenital anorectal malformations

Gene: INTU

Red List (low evidence)

INTU (inturned planar cell polarity protein)
EnsemblGeneIds (GRCh38): ENSG00000164066
EnsemblGeneIds (GRCh37): ENSG00000164066
OMIM: 610621, Gene2Phenotype
INTU is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotype from publication PMID:23936318
Created: 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