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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 | HMGCR |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: HMGCR. Tag Q3_23_MOI tag was added to gene: HMGCR. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 | HMGCR | Sarah Leigh edited their review of gene: HMGCR: Added comment: HMGCR variants have been associated with Muscular dystrophy, limb-girdle, autosomal recessive 28 (OMIM:620375), but with a phenotype in Gen2Phen. PMIDs 37167966; 36745799 report seven HMGCR variants in four unrelated cases. Segregation of the variants and the condition was seen all of the families and in vitro studies revealed that the variant protein had a reduced activity (PMID: 36745799).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 | HMGCR | Sarah Leigh Classified gene: HMGCR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 | HMGCR | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 | HMGCR | Sarah Leigh Gene: hmgcr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.21 | HMGCR | Sarah Leigh Phenotypes for gene: HMGCR were changed from Autosomal recessive limb-girdle muscular dystrophy-28; muscle weakness; myopathy to Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 | HMGCR |
Julia Baptista gene: HMGCR was added gene: HMGCR was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Expert Review,Literature Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCR were set to 37167966; 36745799 Phenotypes for gene: HMGCR were set to Autosomal recessive limb-girdle muscular dystrophy-28; muscle weakness; myopathy Review for gene: HMGCR was set to GREEN Added comment: Several families reported and OMIM entry now available. Morales-Rosado et al. (2023) reported 9 patients from 5 unrelated families with LGMDR28. Symptoms included hypotonia, delayed motor milestones, and axial and neck muscle weakness. Progressive proximal muscle weakness of the upper and lower limbs, waddling gait, muscle atrophy, and increased serum creatine kinase were also described. Biallelic pathogenic variants identified by exome sequencing including missense, in-frame deletion and splice site. Yogev et al (2023) reported 6 affected members of a large consanguineous Bedouin kindred with LGMDR28. In vitro functional studies of the missense variant supported a partial loss of function effect. Sources: Expert Review, Literature |
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