| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.60 | TRIM72 | Zornitza Stark Marked gene: TRIM72 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.60 | TRIM72 | Zornitza Stark Gene: trim72 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.60 | TRIM72 |
Zornitza Stark gene: TRIM72 was added gene: TRIM72 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: TRIM72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM72 were set to 40804694 Phenotypes for gene: TRIM72 were set to Limb girdle muscular dystrophy MONDO:0016971, TRIM72-related Review for gene: TRIM72 was set to RED Added comment: Single affected individual, homozygous LoF variant, c.891delT; p.Ala298ArgfsTer64. However note two homozygous individuals are present in gnomAD. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||