This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: TTC37
TTC37 (tetratricopeptide repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Facial dysmorphic features
- Platelet abnormalities
- IUGR
- Respiratory infections
- Trichohepatoenteric syndrome 1, MIM#222470
- Liver cirrhosis
- Wooly hair:Early-onset intractable diarrhoea
- OMIM
- 614589
- Clinvar variants
- Variants in TTC37
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- COVID-19 research
- Undiagnosed metabolic disorders
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Childhood onset dystonia, chorea or related movement disorder
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: TTC37 was added gene: TTC37 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 21120949; 20176027 Phenotypes for gene: TTC37 were set to Facial dysmorphic features; Platelet abnormalities; IUGR; Respiratory infections; Trichohepatoenteric syndrome 1, MIM#222470; Liver cirrhosis; Wooly hair:Early-onset intractable diarrhoea