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Mitochondrial disorders v10.23 UQCC1 Ida Ertmanska Tag watchlist tag was added to gene: UQCC1.
Mitochondrial disorders v10.23 UQCC1 Ida Ertmanska Classified gene: UQCC1 as Amber List (moderate evidence)
Mitochondrial disorders v10.23 UQCC1 Ida Ertmanska Added comment: Comment on list classification: As reviewed by Hannah Robinson, there are now 2 related families reported with a founder UQCC1 missense variant. There are also supportive functional studies. Hence, this gene can be rated Amber. A 'watchlist' tag was added in anticipation of further cases. MOI set to BOTH for the moment, as it is not clear what mode is correct here.
Mitochondrial disorders v10.23 UQCC1 Ida Ertmanska Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v10.22 UQCC1 Ida Ertmanska commented on gene: UQCC1: PMID: 39504961 AlAbdi et al., 2025
Study of a large exome/genome dataset - Arab population, 17,592 local exomes and 768 local genomes. A founder variant in UQCC1 (NM_018244.5:c.656T>A;p.(Ile219Asn)) was identified in two Arab families with lactic acidosis and borderline microcephaly. Diagnosed with 'UQCC1-related mitochondrial energy disorder'. 1 individual was homozygous, and 3 heterozygous for the variant (presuming all 4 are affected?). No segregation or functional evidence provided.
Mitochondrial disorders v10.22 UQCC1 Ida Ertmanska Mode of inheritance for gene: UQCC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v10.21 UQCC1 Ida Ertmanska Publications for gene: UQCC1 were set to
Mitochondrial disorders v10.20 UQCC1 Ida Ertmanska Added comment: Comment on phenotypes: No OMIM phenotype associated as of 20th Aug 2026.
Mitochondrial disorders v10.20 UQCC1 Ida Ertmanska Phenotypes for gene: UQCC1 were changed from No OMIM phenotype to mitochondrial respiratory chain complex deficiency, MONDO:0000066
Mitochondrial disorders v10.18 UQCC1 Hannah Robinson reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39504961; Phenotypes: lactic acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.109 UQCC1 Arina Puzriakova commented on gene: UQCC1
Mitochondrial disorders v2.108 UQCC1 Arina Puzriakova Source Expert Review Red was added to UQCC1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.5 UQCC1 Zornitza Stark reviewed gene: UQCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.412 UQCC1 Sarah Leigh reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 UQCC1 Sarah Leigh gene: UQCC1 was added
gene: UQCC1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype