Muscular dystrophy and myopathy_Paediatric
Gene: FXR1
Variable age of onset - typically early to late childhood
PMID: 30770808
4 individuals from 2 unrelated families (3 individuals reported from the same family) present with phenotypic features of myopathy such as hypotonia.
PMID: 35393337
8 individuals from 4 unrelated families identified with bi-allelic variants with myopathy phenotypes
Sources: OtherCreated: 8 May 2023, 4:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823; MONDO:0032937)
Publications
Two unrelated families and a mouse model with non-lethal myopathy phenotype.
Sources: NHS GMSCreated: 26 Feb 2020, 1:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital multi-minicore myopathy
Publications
Gene: fxr1 has been classified as Green List (High Evidence).
Gene: fxr1 has been classified as Green List (High Evidence).
gene: FXR1 was added gene: FXR1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 30770808; 35393337 Phenotypes for gene: FXR1 were set to Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823; MONDO:0032937) Review for gene: FXR1 was set to GREEN