Familial diabetes
Gene: TRMT10A
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: TRMT10A; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disabilityCreated: 11 Jan 2019, 10:04 a.m.
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:32 p.m.
Variants in this gene are reported as part of current diagnostic practiceCreated: 16 Oct 2015, 8:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for TRMT10A were set to young onset diabetes, short stature and microcephaly with intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
Phenotypes for TRMT10A were set to young onset diabetes, short stature and microcephaly with intellectual disability
This gene has been classified as Green List (High Evidence).
TRMT10A was added to Familial diabetespanel. Sources: Expert Review