Muscular dystrophy and myopathy_Paediatric
Gene: TRIP4
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: OtherCreated: 9 May 2023, 4:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)
Publications
>3 cases with onset before adulthood
Sources: NHS GMSCreated: 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
Gene: trip4 has been classified as Green List (High Evidence).
Gene: trip4 has been classified as Green List (High Evidence).
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