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| Mendeliome v2.25 | MCUR1 |
Sangavi Sivagnanasundram gene: MCUR1 was added gene: MCUR1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MCUR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCUR1 were set to 42087238 Phenotypes for gene: MCUR1 were set to MCUR1-related neuromuscular disorder MONDO:0100546 Review for gene: MCUR1 was set to RED Added comment: PMID 42087238: One individual from consanguineous parents presenting with mild proximal muscle weakness and atrophy in lower limbs. Homozygous variant was identified - c.802C>T(R268Ter) - Present in gnomAD v4.1 (MID popmax AF 0.0826%) Patient fibroblasts lack MCUR1 protein and show reduced mitochondrial Ca2+ uptake, decreased ATP production and increased autophagic flux, supporting a mitochondrial myopathy. No additional families have been described. No pathogenic variants have been reported in this gene. LoF is not an established mechanism of disease either. gnomAD v4.1 pLI = 0; o/e = 0.88 (0.68 - 1.16). As of this review, there is no ClinGen review or Morbid entry in OMIM for this gene-disease association. Sources: Literature |
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