Arthrogryposis
Gene: TRIP4Comment 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
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
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
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
Gene: trip4 has been classified as Amber List (Moderate Evidence).
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
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