Genomics England
GMS Panels
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Genes and Entities

TRIP4

thyroid hormone receptor interactor 4
OMIM: 604501
PanelMode of inheritanceDetails
4 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066, Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
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
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.8
BIALLELIC, autosomal or pseudoautosomal
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