Non-syndromic familial congenital anorectal malformations
Gene: HHIP
HHIP (hedgehog interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000164161
EnsemblGeneIds (GRCh37): ENSG00000164161
OMIM: 606178, Gene2Phenotype
HHIP is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000164161
EnsemblGeneIds (GRCh37): ENSG00000164161
OMIM: 606178, Gene2Phenotype
HHIP is in 2 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Added phenotype from publication PMID:27082974Created: 14 Aug 2018, 3:47 p.m.
Gene added to panel as mentioned in Gao et al 2016 (PMID: 27082974) who found that patients with 3 SNPs in this gene (called HH in the paper) were associated with a greater risk of Hirschsprung's disease (HSCR) and/or ARM. Sequencing of rs61730970 and rs146535482 revealed a loss of heterozygosity and SNPs at these loci in patients with ARM. The paper doesn't suggest that these SNPs are causative.Created: 4 Aug 2018, 9:56 p.m.
Details
- Sources
-
- Literature
- Phenotypes
-
- anorectal malformation
- OMIM
- 606178
- Clinvar variants
- Variants in HHIP
- 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 panel as mention
14 Aug 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: HHIP were set to anorectal malformation
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)HHIP was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)HHIP was created by Eleanor Williams