PanelApp
  1. Genes and Genomic Entities
  2. TTL

TTL

tubulin tyrosine ligase
OMIM: 608291, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TTL in Tubulinopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.2

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Amber TTL in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • complex neurodevelopmental disorderMONDO:0100038

    Amber TTL in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038