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  2. Muscular dystrophy and myopathy_Paediatric
  3. TRIP4
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Muscular dystrophy and myopathy_Paediatric

Gene: TRIP4

Green List (high evidence)
TRIP4 (thyroid hormone receptor interactor 4)
EnsemblGeneIds (GRCh38): ENSG00000103671
EnsemblGeneIds (GRCh37): ENSG00000103671
OMIM: 604501, Gene2Phenotype
TRIP4 is in 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 27008887
4 individuals from a consanguineous French family with congenital muscular dystrophy

PMID: 31794073
5 individuals from unrelated families with phenotypic onset in childhood or at birth consistent with congenital muscular dystrophy.
Sources: Other
Created: 9 May 2023, 4:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)

Publications

Created: 9 May 2023, 4:31 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases with onset before adulthood
Sources: NHS GMS
Created: 26 Feb 2020, 4:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy; Muscular dystrophy, congenital, Davignon-Chauveau type MIM#617066

Publications

Created: 26 Feb 2020, 4:12 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)
OMIM
604501
Clinvar variants
Variants in TRIP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trip4 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trip4 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: TRIP4 was added gene: TRIP4 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 27008887; 31794073 Phenotypes for gene: TRIP4 were set to ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Review for gene: TRIP4 was set to GREEN