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  2. Muscular dystrophy and myopathy_Paediatric
  3. FXR1
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Muscular dystrophy and myopathy_Paediatric

Gene: FXR1

Green List (high evidence)
FXR1 (FMR1 autosomal homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000114416
EnsemblGeneIds (GRCh37): ENSG00000114416
OMIM: 600819, Gene2Phenotype
FXR1 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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: Other
Created: 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

Created: 8 May 2023, 4:36 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Two unrelated families and a mouse model with non-lethal myopathy phenotype.
Sources: NHS GMS
Created: 26 Feb 2020, 1:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital multi-minicore myopathy

Publications

Created: 26 Feb 2020, 1:43 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.84

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823
  • MONDO:0032937)
OMIM
600819
Clinvar variants
Variants in FXR1
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: fxr1 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: fxr1 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

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