Muscular dystrophy and myopathy_Paediatric
Gene: CAVIN1
Gene also known as PTRF. Multiple families reported with onset of disease in childhood, muscular dystrophy is a feature.
Sources: Expert listCreated: 17 Jun 2020, 6:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Publications
Gene also known as PTRF. Multiple families reported with onset of disease in childhood.
Onset in infancy or early childhood (OMIM)
Sources: Expert ReviewCreated: 17 Jun 2020, 1:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Publications
Tag treatable tag was added to gene: CAVIN1.
Publications for gene: CAVIN1 were set to
Gene: cavin1 has been classified as Green List (High Evidence).
Gene: cavin1 has been classified as Green List (High Evidence).
gene: CAVIN1 was added gene: CAVIN1 was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 (MIM#613327) Review for gene: CAVIN1 was set to GREEN