Congenital hyperinsulinism

Gene: TRMT10A

Red List (low evidence)

TRMT10A (tRNA methyltransferase 10A)
EnsemblGeneIds (GRCh38): ENSG00000145331
EnsemblGeneIds (GRCh37): ENSG00000145331
OMIM: 616013, Gene2Phenotype
TRMT10A is in 8 panels

4 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

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

Ivone Leong (Genomics England Curator)

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.

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

Comment on list classification: Insufficient number of families to include now. Keep under review.
Created: 12 Apr 2016, 10:33 a.m.

History Filter Activity

11 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TRMT10A.

12 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Oct 2015, Gel status: 0

Added New Source

Sian Ellard (University of Exeter Medical School)

TRMT10A was added to Hyperinsulinismpanel. Sources: Expert Review