This Panel is marked as Retired
A- or hypo-gammaglobulinaemia
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
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: After literature research, clear evidence that variants in this gene are linked to TRICHOHEPATOENTERIC SYNDROME 1, which main symptom appears to be diarrhea. One of the listed symptoms is also immunodeficiency, however hypoglobulinaemia is not specifically mentioned in the literature.Created: 15 Aug 2017, 1:02 p.m.
Sophie Hambleton (Newcastle University)
OMIM:222470Created: 6 Jan 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intrauterine growth retardation, woolly hair; facial dysmorphism; intractable diarrhoea in infancy requiring total parenteral nutrition; hypogammaglobulinaemia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- intrauterine growth retardation, woolly hair
- facial dysmorphism
- intractable diarrhoea in infancy requiring total parenteral nutrition
- hypogammaglobulinaemia
- OMIM
- 614589
- Clinvar variants
- Variants in TTC37
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- COVID-19 research
- Undiagnosed metabolic disorders
- Intestinal failure or congenital diarrhoea
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
15 Aug 2017, Gel status: 2
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
6 Jan 2017, Gel status: 0
Created
Sophie Hambleton (Newcastle University)TTC37 was created by shamblet
6 Jan 2017, Gel status: 0
Added New Source
Sophie Hambleton (Newcastle University)TTC37 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Expert Review