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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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

As reviewed by Hannah Knight, PMID:31794073 reported additional families with joint contractures. However, none of them presented with arthrogryposis or congenital contractures. Hence, the rating should remain amber with the Current evidence.
Created: 24 Apr 2024, 5:44 p.m. | Last Modified: 24 Apr 2024, 5:44 p.m.
Panel Version: 5.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066

Publications

Created: 24 Apr 2024, 5:44 p.m.
Last Modified: 24 Apr 2024, 5:44 p.m.
Panel version: 5.26

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 31794073 report multiple additional families with contractures, with different variants
Created: 17 Apr 2024, 1:59 p.m. | Last Modified: 17 Apr 2024, 1:59 p.m.
Panel Version: 5.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with congenital bone fractures 1

Publications

Created: 17 Apr 2024, 1:59 p.m.
Last Modified: 17 Apr 2024, 1:59 p.m.
Panel version: 5.22

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Three families with multiple congenital contractures among other features associated with variants in this gene (PMID: 26924529). However, a founder effect was suspected in the two Kosovo families and therefore this can only be considered as 2 cases total. Maintaining Amber rating, awaiting further cases/clinical evidence.
Created: 4 Jan 2021, 2:49 p.m. | Last Modified: 4 Jan 2021, 2:49 p.m.
Panel Version: 3.33
Created: 4 Jan 2021, 2:49 p.m.
Last Modified: 4 Jan 2021, 2:49 p.m.
Panel version: 3.33

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 individuals from three families reported, zebrafish model. Fetal akinesia with contractures and bone fractures.
Created: 13 Jul 2020, 12:57 a.m. | Last Modified: 13 Jul 2020, 12:57 a.m.
Panel Version: 3.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Jul 2020, 12:57 a.m.
Last Modified: 13 Jul 2020, 12:57 a.m.
Panel version: 3.11

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
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, OMIM:616866
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
  • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
OMIM
604501
Clinvar variants
Variants in TRIP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: trip4 has been classified as Amber List (Moderate Evidence).

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