Congenital myopathy
Gene: TRIP4EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 6 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association. The gene is also Green on Neuromuscular disordersCreated: 9 Oct 2019, 12:38 p.m. | Last Modified: 9 Oct 2019, 12:38 p.m.
Panel Version: 1.165
Reviewed by Ivone Leong (Genomics England Curator)
PMID: 26924529 reported on 3 families (2 Kosovo and 1 Albania) who have 2 different variants in TRIP4. The affected individuals presented with prenatal-onset SMA, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. The authors suspect a founder effect in the Kosovo families. I think I would count this as 2 cases because of this.
There is another paper (PMID: 27008887) which reported on a large family with TRIP4 variant who have neonatal hypotonia particularly marked in axial (neck and trunk) muscles, severe head lag, poor antigravity limb movements and in some patients, respiratory failure and feeding difficulties. There were no congenital contractures. OMIM has classified this variant as Davignon-Chauveau-type congenital muscular dystrophy. Could this be counted as a third case?
Genomics England clinical team noted there was sufficient for a green rating. The fact that a second case has been found, besides the potential founder variant, and there is a supportive animal model would meet our criteria. additional paper adds evidence of a neuromuscular phenotype associated with this gene
The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.Created: 9 Oct 2019, 12:35 p.m. | Last Modified: 9 Oct 2019, 1:35 p.m.
Panel Version: 1.166
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe congenital myopathy with congenital bone fractures 616866
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London South GLH
- Phenotypes
-
- Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
- Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
- OMIM
- 604501
- Clinvar variants
- Variants in TRIP4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TRIP4 were changed from 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 to Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TRIP4 were changed from severe congenital myopathy with congenital bone fractures, 616866; 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; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: trip4 has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TRIP4 were set to 26924529
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TRIP4 were changed from severe congenital myopathy with congenital bone fractures, 616866 to severe congenital myopathy with congenital bone fractures, 616866; Spinal muscular atrophy with congenital bone fractures 1, 616866
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TRIP4 were changed from vacuolar myopathy? to severe congenital myopathy with congenital bone fractures, 616866
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TRIP4 were set to 23315026
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TRIP4 were changed from to vacuolar myopathy?
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TRIP4 were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TRIP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TRIP4.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TRIP4 was added gene: TRIP4 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: TRIP4 was set to