Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: TRMT10A

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted due to expert review.
Created: 23 Aug 2016, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
young onset diabetes, short stature and microcephaly with intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies

Publications

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Variants in this gene are reported as part of current diagnostic practice
Created: 16 Oct 2015, 8:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • young onset diabetes, short stature and microcephaly with intellectual disability
  • failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
OMIM
616013
Clinvar variants
Variants in TRMT10A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRMT10A was created by ellenmcdonagh

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRMT10A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review