TRIP4

thyroid hormone receptor interactor 4
OMIM: 604501, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TRIP4 in Neuromuscular disorders


Version 5.255
Latest signed off version: v5.43 (4 Mar 2020)

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

No list TRIP4 in Ataxia and cerebellar anomalies - narrow panel


Version 2.241
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.

    Amber TRIP4 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.137
    Latest signed off version: v3.2 (13 Feb 2020)

    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.64
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    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 Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    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 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.69
    Latest signed off version: v1.30 (4 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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

    Amber TRIP4 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

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

    Green TRIP4 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    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