TRMT1L

tRNA methyltransferase 1 like
OMIM: 611673, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red TRMT1L in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.7

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related

    Red TRMT1L in Mendeliome


    Version 1.3936

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related

    Red TRMT1L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.542

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related

    Red TRMT1L in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.335

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related

    Red TRMT1L in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.53

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related