A- or hypo-gammaglobulinaemiaGene: TTC37
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.
Created: 6 Jan 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
intrauterine growth retardation, woolly hair; facial dysmorphism; intractable diarrhoea in infancy requiring total parenteral nutrition; hypogammaglobulinaemia
This gene has been classified as Amber List (Moderate Evidence).
TTC37 was created by shamblet
TTC37 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Expert Review