Non-syndromic familial congenital anorectal malformations
Gene: TNNI3K
TNNI3K (TNNI3 interacting kinase)
EnsemblGeneIds (GRCh38): ENSG00000116783
EnsemblGeneIds (GRCh37): ENSG00000116783
OMIM: 613932, Gene2Phenotype
TNNI3K is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000116783
EnsemblGeneIds (GRCh37): ENSG00000116783
OMIM: 613932, Gene2Phenotype
TNNI3K is in 4 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Phenotype added from publication PMID:23936318Created: 14 Aug 2018, 4:06 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, 9:48 p.m.
Details
- Sources
-
- Literature
- Phenotypes
-
- anorectal malformation
- OMIM
- 613932
- Clinvar variants
- Variants in TNNI3K
- 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: TNNI3K were set to anorectal malformation
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)TNNI3K was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)TNNI3K was created by Eleanor Williams