Congenital hyperinsulinism

Gene: TRMT10A

Red List (low evidence)

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

• 25053765

Green List (high evidence)

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.

Red List (low evidence)

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.