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Mitochondrial disorder with complex I deficiency v1.17 | NDUFC2 | Arina Puzriakova reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32969598; Phenotypes: Mitochondrial complex I deficiency, nuclear type 36, OMIM: 619170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.15 | NDUFC2 |
Sarah Leigh Tag for-review was removed from gene: NDUFC2. Tag Q2_21_rating was removed from gene: NDUFC2. |
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Mitochondrial disorder with complex I deficiency v1.15 | NDUFC2 | Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.15 | NDUFC2 |
Sarah Leigh Source Expert Review Green was added to NDUFC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mitochondrial disorder with complex I deficiency v1.14 | NDUFC2 | Ivone Leong Tag Q2_21_rating tag was added to gene: NDUFC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.9 | NDUFC2 | Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).; to: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.9 | NDUFC2 | Sarah Leigh Added comment: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.9 | NDUFC2 | Sarah Leigh Phenotypes for gene: NDUFC2 were changed from Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.8 | NDUFC2 | Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.7 | NDUFC2 | Sarah Leigh Publications for gene: NDUFC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.6 | NDUFC2 | Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype to No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.5 | NDUFC2 | Sarah Leigh Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.4 | NDUFC2 | Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.4 | NDUFC2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.4 | NDUFC2 | Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.3 | NDUFC2 | Sarah Leigh Tag for-review tag was added to gene: NDUFC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.3 | NDUFC2 | Sarah Leigh reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.3 | NDUFC2 | Carl Fratter edited their review of gene: NDUFC2: Added comment: Suggest update to green in view of recent publication; Changed rating: GREEN; Changed publications: PMID: 32969598; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.64 | NDUFC2 | Ellen McDonagh Marked gene: NDUFC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.64 | NDUFC2 | 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 I deficiency v0.64 | NDUFC2 | Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.36 | NDUFC2 | Carl Fratter reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.33 | NDUFC2 | Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.33 | NDUFC2 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.33 | NDUFC2 | Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.3 | NDUFC2 | Ivone Leong reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.2 | NDUFC2 |
Ivone Leong gene: NDUFC2 was added gene: NDUFC2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFC2 was set to Unknown Phenotypes for gene: NDUFC2 were set to No OMIM phenotype |