Combined Immunodeficiency
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)
Over 20 families reported.
Sources: Expert listCreated: 4 Apr 2020, 2:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1, MIM# 222470; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair:Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Trichohepatoenteric syndrome 1, MIM# 222470
- Respiratory infections
- IUGR
- Facial dysmorphic features
- Wooly hair:Early-onset intractable diarrhoea
- Liver cirrhosis
- Platelet abnormalities
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc37 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTC37 was added gene: TTC37 was added to Combined Immunodeficiency. Sources: 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 Trichohepatoenteric syndrome 1, MIM# 222470; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair:Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities Review for gene: TTC37 was set to GREEN