TRIP4

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red TRIP4 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 2.0	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 2.0	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 2.0	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 2.0	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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 2.0	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