Congenital hyperinsulinism
Gene: TRMT10A
TRMT10A is a cause of Autosomal recessive hyperinsulinaemic hypoglycaemia, microcephaly, intellectual disability, short stature, delayed puberty and seizures (Gillis et al 2014 J Med Genet 51(9):581516). However since none of the patients reported in the literature had any evidence of hypoglycaemia in the neonatal period I do not feel that there is sufficient evidence to turn this gene green on the congenital hyperinsulinism panel.Created: 15 Feb 2019, 11:03 a.m.
Publications
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 hyperinsulinaemic hypoglycaemia, microcephaly, intellectual disability, short stature, delayed puberty and seizures.Created: 11 Jan 2019, 2:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Insufficient number of families to include now. Keep under review.Created: 12 Apr 2016, 10:33 a.m.
Source NHS GMS was added to TRMT10A.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
TRMT10A was added to Hyperinsulinismpanel. Sources: Expert Review