TRIP4:Ensemblv115

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TRIP4 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 2.0

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

Green TRIP4 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TRIP4 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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