| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.0 | LPIN1 | Gene migrated from ENSG00000134324 to ENSG00000134324 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Marked gene: LPIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Classified gene: LPIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | LPIN1 |
Crystle Lee gene: LPIN1 was added gene: LPIN1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 28649549; 18817903; 32410653 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Review for gene: LPIN1 was set to AMBER Added comment: Biallelic variants reported in>5 families. Rhabdomyolysis is a significant feature. Patients present with muscle weakness and elevated CK. Added as a differential diagnosis to LGMD (PanelApp UK) Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||