Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: LRIF1EnsemblGeneIds (GRCh38): ENSG00000121931
EnsemblGeneIds (GRCh37): ENSG00000121931
OMIM: 615354, Gene2Phenotype
LRIF1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
FSHD shares some similar features with LGMD.
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: LiteratureCreated: 6 Jun 2022, 1:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Facioscapulohumeral muscular dystrophy MONDO:0001347
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Facioscapulohumeral muscular dystrophy MONDO:0001347
- OMIM
- 615354
- Clinvar variants
- Variants in LRIF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LRIF1 was added gene: LRIF1 was added to Limb Girdle Muscular Dystrophy. 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 MONDO:0001347 Review for gene: LRIF1 was set to AMBER