Non-syndromic familial congenital anorectal malformations
Gene: ECSIT
ECSIT (ECSIT signalling integrator)
EnsemblGeneIds (GRCh38): ENSG00000130159
EnsemblGeneIds (GRCh37): ENSG00000130159
OMIM: 608388, Gene2Phenotype
ECSIT is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000130159
EnsemblGeneIds (GRCh37): ENSG00000130159
OMIM: 608388, Gene2Phenotype
ECSIT is in 5 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Added phenotype from publication PMID:23936318Created: 14 Aug 2018, 3:41 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, 9:40 p.m.
Details
- Sources
-
- Literature
- Phenotypes
-
- anorectal malformation
- OMIM
- 608388
- Clinvar variants
- Variants in ECSIT
- 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: ECSIT were set to anorectal malformation
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)ECSIT was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)ECSIT was created by Eleanor Williams