TRMT10A

tRNA methyltransferase 10A
OMIM: 616013, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TRMT10A in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review 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

Red TRMT10A in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review

Green TRMT10A in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.38

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • 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

Green TRMT10A in Monogenic diabetes


Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
  • young onset diabetes, short stature and microcephaly with intellectual disability
  • Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability
  • Microcephaly, short stature, and impaired glucose metabolism 1, 616033

Green TRMT10A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1
  • 616033
  • MSSGM1
  • primary microcephaly

Red TRMT10A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.203

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, short stature and impaired glucose metabolism, 616033

Red TRMT10A in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, short stature and impaired glucose metabolism, 616033

Green TRMT10A in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Expert Review Amber
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, 616033
  • Young onset diabetes, short stature and microcephaly with intellectual disability