Distal myopathies

Gene: LRIF1

Amber List (moderate evidence)

LRIF1 (ligand dependent nuclear receptor interacting factor 1)
EnsemblGeneIds (GRCh38): ENSG00000121931
EnsemblGeneIds (GRCh37): ENSG00000121931
OMIM: 615354, Gene2Phenotype
LRIF1 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting from red to amber, and there is one case plus some functional data.
Created: 12 Jan 2021, 10:38 p.m. | Last Modified: 12 Jan 2021, 10:38 p.m.
Panel Version: 1.29
Review from Bryony Thompson (Royal Melbourne Hospital) on gene in PanelApp Australia.
A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Sources: Literature
Created: 12 Jan 2021, 10:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Facioscapulohumeral muscular dystrophy



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Facioscapulohumeral muscular dystrophy
Clinvar variants
Variants in LRIF1
Panels with this gene

History Filter Activity

12 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: lrif1 has been classified as Amber List (Moderate Evidence).

12 Jan 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: LRIF1 was added gene: LRIF1 was added to Distal myopathies. Sources: Literature Mode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIF1 were set to 32467133 Phenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy Review for gene: LRIF1 was set to AMBER