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| Mitochondrial disorders v2.19 | USMG5 | Catherine Snow commented on gene: USMG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.19 | USMG5 | Catherine Snow Tag new-gene-name tag was added to gene: USMG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.485 | USMG5 | Sarah Leigh Tag founder-effect tag was added to gene: USMG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.485 | USMG5 | Sarah Leigh edited their review of gene: USMG5: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.455 | USMG5 | Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). The GMS mitochondrial specialist test group should be consultated on this gene and the founder variants (comment from Anna de Burca, Genomics England Clinical Fellow). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.428 | USMG5 | Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077).; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.428 | USMG5 | Sarah Leigh Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.428 | USMG5 | Sarah Leigh Publications for gene: USMG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | USMG5 | Sarah Leigh reviewed gene: USMG5: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29917077, 30240627; Phenotypes: Autosomal recessive Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | USMG5 |
Sarah Leigh gene: USMG5 was added gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: USMG5 was set to |
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