This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: TTC7A
TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Phenotypes
-
- Gastrointestinal defects and immunodeficiency syndrome, 243150
- OMIM
- 609332
- Clinvar variants
- Variants in TTC7A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Non-syndromic familial congenital anorectal malformations
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Gastrointestinal epithelial barrier disorders
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TTC7A was added gene: TTC7A was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC7A were set to 30553809; 28936210 Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150