TTC14

tetratricopeptide repeat domain 14
ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red TTC14 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TTC14-related

    Red TTC14 in Mendeliome


    Version 2.588

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TTC14-related

    Red TTC14 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.32

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TTC14-related

    Red TTC14 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.42

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TTC14-related

    Red TTC14 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, TTC14-related