| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Marked gene: HMGCR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Classified gene: HMGCR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 | HMGCR |
Naomi Baker gene: HMGCR was added gene: HMGCR was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCR were set to PMID: 37167966; 36745799 Phenotypes for gene: HMGCR were set to autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Review for gene: HMGCR was set to GREEN Added comment: PMID: 37167966 reports nine affected individuals from five unrelated families with hypomorphic biallelic variants. Clinical presentations ranges from 4 months to 10 years, and included hydrops, delayed delayed motor milestones, prominent calves, and neck weakness. Seven missense identified, one in-frame deletion and one non-canonical splice variant. Functional studies of three missense variants demonstrated reduced exhibit significant enzymatic activity impairment relative to wild-type (WT) HMGCR protein. PMID: 36745799 also reports a homozygous loss-of-function missense variant. Sources: Literature |
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