Congenital Diarrhoea
Gene: TTC37EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.Created: 5 Jan 2021, 12:03 a.m. | Last Modified: 5 Jan 2021, 12:03 a.m.
Panel Version: 0.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1, MIM# 222470
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Trichohepatoenteric syndrome 1, MIM# 222470
- OMIM
- 614589
- Clinvar variants
- Variants in TTC37
- Penetrance
- None
- Publications
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Hair disorders
- Prepair 1000+
- Liver Failure_Paediatric
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Prepair 500+
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc37 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTC37 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTC37 was added gene: TTC37 was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC37 was set to Unknown