TTC5

tetratricopeptide repeat domain 5
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TTC5 in Severe microcephaly


Level 2: Neurology
Version 8.43
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Green TTC5 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TTC5-associated neurodevelopmental disorder
    Green TTC5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244