Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: TRMT10AEnsemblGeneIds (GRCh38): ENSG00000145331
EnsemblGeneIds (GRCh37): ENSG00000145331
OMIM: 616013, Gene2Phenotype
TRMT10A is in 10 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)
Variants in this gene are reported as part of current diagnostic practiceCreated: 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)TRMT10A was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TRMT10A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review