A- or hypo-gammaglobulinaemia

Gene: TTC37

Amber List (moderate evidence)

TTC37 (tetratricopeptide repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 12 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)

Green List (high evidence)

OMIM:222470
Created: 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

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