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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FXR1-related congenital myopathy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMIDs: 30770808;35393337).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FXR1-related congenital myopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FXR1-related congenital myopathy
OMIM
600819
Clinvar variants
Variants in FXR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FXR1 was added gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 35393337; 30770808 Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy