|Distal myopathies v1.29||LRIF1||Eleanor Williams Classified gene: LRIF1 as Amber List (moderate evidence)|
|Distal myopathies v1.29||LRIF1||Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, and there is one case plus some functional data.|
|Distal myopathies v1.29||LRIF1||Eleanor Williams Gene: lrif1 has been classified as Amber List (Moderate Evidence).|
|Distal myopathies v1.28||LRIF1||
Eleanor Williams 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
Added comment: 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.