PanelApp (staging)
  1. Genes and Genomic Entities
  2. TRIP4

TRIP4

thyroid hormone receptor interactor 4
OMIM: 604501, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red TRIP4 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866

    Green TRIP4 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.416

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866

    Amber TRIP4 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.

    Green TRIP4 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
    • Muscular dystrophy, congenital, Davignon-Chauveau type 617066

    Green TRIP4 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)

    Green TRIP4 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866

    Green TRIP4 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
    • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806