TRMT10A

tRNA methyltransferase 10A
OMIM: 616013, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber TRMT10A in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033

Green TRMT10A in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
  • MONDO:0000208

Green TRMT10A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
  • MONDO:0000208

Green TRMT10A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review
    • Literature
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033

    Green TRMT10A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
    • MONDO:0000208

    Red TRMT10A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review Not set
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, short stature and impaired glucose metabolism, 616033

    Green TRMT10A in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism 1, 616033

    Green TRMT10A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)

    Green TRMT10A in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
    • MONDO:0000208

    Green TRMT10A in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
    • MONDO:0000208

    Green TRMT10A in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)