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  2. Monogenic Diabetes
  3. TRMT10A
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Monogenic Diabetes

Gene: TRMT10A

Green List (high evidence)
TRMT10A (tRNA methyltransferase 10A)
EnsemblGeneIds (GRCh38): ENSG00000145331
EnsemblGeneIds (GRCh37): ENSG00000145331
OMIM: 616013, Gene2Phenotype
TRMT10A is in 11 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

As reviewed in PMID 34541035, 13 unrelated patients in literature with disorder and TRMT10A change, 8 with diabetes mellitus diagnosis <30y
35137278: additional case since review published

Diabetes mellitus as feature of disease
Created: 2 May 2024, 7:06 a.m. | Last Modified: 2 May 2024, 7:06 a.m.
Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0000208

Publications

Created: 2 May 2024, 7:06 a.m.
Last Modified: 2 May 2024, 7:06 a.m.
Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, 616033
OMIM
616013
Clinvar variants
Variants in TRMT10A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt10a has been classified as Green List (High Evidence).

4 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRMT10A were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, 616033

4 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRMT10A were set to 26297882; 24204302

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRMT10A was added gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26297882; 24204302 Phenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033