Activity

Filter

Cancel
Date Panel Item Activity
25 actions
Mitochondrial disorder with complex III deficiency v2.14 UQCC1 Ida Ertmanska Tag watchlist tag was added to gene: UQCC1.
Mitochondrial disorder with complex III deficiency v2.14 UQCC1 Ida Ertmanska changed review comment from: 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.; to: 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 disorder with complex III deficiency v2.14 UQCC1 Ida Ertmanska Classified gene: UQCC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v2.14 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.
Mitochondrial disorder with complex III deficiency v2.14 UQCC1 Ida Ertmanska Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v2.13 UQCC1 Ida Ertmanska Mode of inheritance for gene: UQCC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v2.12 UQCC1 Ida Ertmanska Added comment: Comment on phenotypes: No OMIM phenotype associated as of 20th Aug 2026.
Mitochondrial disorder with complex III deficiency v2.12 UQCC1 Ida Ertmanska Phenotypes for gene: UQCC1 were changed from mitochondrial respiratory chain complex deficiency, MONDO:0000066 to mitochondrial respiratory chain complex deficiency, MONDO:0000066
Mitochondrial disorder with complex III deficiency v2.11 UQCC1 Ida Ertmanska Phenotypes for gene: UQCC1 were changed from No OMIM phenotype to mitochondrial respiratory chain complex deficiency, MONDO:0000066
Mitochondrial disorder with complex III deficiency v2.10 UQCC1 Ida Ertmanska Publications for gene: UQCC1 were set to
Mitochondrial disorder with complex III deficiency v2.9 UQCC1 Ida Ertmanska changed review comment from: 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.; to: 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 disorder with complex III deficiency v2.9 UQCC1 Ida Ertmanska edited their review of gene: UQCC1: Changed rating: AMBER
Mitochondrial disorder with complex III deficiency v2.9 UQCC1 Ida Ertmanska reviewed gene: UQCC1: Rating: RED; Mode of pathogenicity: None; Publications: 39504961; Phenotypes: mitochondrial respiratory chain complex deficiency, MONDO:0000066; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v2.8 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 disorder with complex III deficiency v1.5 UQCC1 Arina Puzriakova Classified gene: UQCC1 as Red List (low evidence)
Mitochondrial disorder with complex III deficiency v1.5 UQCC1 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Mitochondrial disorder with complex III deficiency v1.5 UQCC1 Arina Puzriakova Gene: uqcc1 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Ellen McDonagh Marked gene: UQCC1 as ready
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Ellen McDonagh Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Carl Fratter reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.15 UQCC1 Anna de Burca Classified gene: UQCC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.15 UQCC1 Anna de Burca Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.3 UQCC1 Ivone Leong reviewed gene: UQCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.2 UQCC1 Ivone Leong gene: UQCC1 was added
gene: UQCC1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype