TRMT10A

tRNA methyltransferase 10A
OMIM: 616013, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 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 2.4
Signed off v.2.3 on 25 Feb 2020

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 2.3
Signed off v.2.2 on 25 Feb 2020

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 2.26
Signed off v.2.2 on 2 Mar 2020

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 2.20
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • 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 2.6
    Signed off v.2.2 on 13 Feb 2020

    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 3.363
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green TRMT10A in Severe Paediatric Disorders


    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism 1, 616033