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Arthrogryposis

Gene: TRIP4

Amber List (moderate evidence)

TRIP4 (thyroid hormone receptor interactor 4)
EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1, 616866
OMIM
604501
Clinvar variants
Variants in TRIP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, 616866

26 Nov 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TRIP4 was added gene: TRIP4 was added to Arthrogryposis. Sources: Literature,Expert Review Amber Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 26924529 Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1