1. Genes and Genomic Entities
  2. TRIP4

TRIP4

thyroid hormone receptor interactor 4
OMIM: 604501, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red TRIP4 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.
    Amber TRIP4 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
    • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
    • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
    Green TRIP4 in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    Phenotypes
    • Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
    • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
    Green TRIP4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
    • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
    • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
    • ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
    • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
    Green TRIP4 in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.12
    Latest signed off version: v3.9 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
    • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
    • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
    Green TRIP4 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures