Congenital myopathy

Gene: FXR1

Green List (high evidence)

FXR1 (FMR1 autosomal homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000114416
EnsemblGeneIds (GRCh37): ENSG00000114416
OMIM: 600819, Gene2Phenotype
FXR1 is in 1 panel

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
congenital multi-minicore myopathy.

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Created: 5 Dec 2019, 4:38 p.m. | Last Modified: 5 Dec 2019, 4:38 p.m.
Panel Version: 1.226
New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Created: 2 Dec 2019, 2:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital multi-minicore myopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital multi-minicore myopathy
  • ?Myopathy, congenital proximal, with minicore lesions #618823
  • ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822
OMIM
600819
Clinvar variants
Variants in FXR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fxr1 has been classified as Green List (High Evidence).

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fxr1 has been classified as Amber List (Moderate Evidence).

2 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: FXR1 was added gene: FXR1 was added to Congenital myopathy. Sources: Expert Review Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 30770808 Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy Review for gene: FXR1 was set to AMBER