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Possible mitochondrial disorder, nuclear genes v1.100 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
Possible mitochondrial disorder, nuclear genes v1.67 NDUFC2 Sarah Leigh Tag for-review was removed from gene: NDUFC2.
Possible mitochondrial disorder, nuclear genes v1.67 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Possible mitochondrial disorder, nuclear genes v1.66 NDUFC2 Sarah Leigh Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v1.34 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).
Possible mitochondrial disorder, nuclear genes v1.34 NDUFC2 Sarah Leigh changed review comment from: Comment on phenotypes: Assigned a OMIM phenotype 02/02/2021; to: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Possible mitochondrial disorder, nuclear genes v1.34 NDUFC2 Sarah Leigh Added comment: Comment on phenotypes: Assigned a OMIM phenotype 02/02/2021
Possible mitochondrial disorder, nuclear genes v1.34 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
Possible mitochondrial disorder, nuclear genes v1.28 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 (PMID 32969598), these are in addition to the 2 familes with complex I deficiency reported by Carl Fratter (review below 10 May 2019).; to: 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).
Possible mitochondrial disorder, nuclear genes v1.28 NDUFC2 Sarah Leigh edited their review of gene: NDUFC2: Added comment: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases (PMID 32969598), these are in addition to the 2 familes with complex I deficiency reported by Carl Fratter (review below 10 May 2019).; Changed rating: GREEN
Possible mitochondrial disorder, nuclear genes v1.28 NDUFC2 Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v1.28 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.
Possible mitochondrial disorder, nuclear genes v1.28 NDUFC2 Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v1.27 NDUFC2 Sarah Leigh Tag for-review tag was added to gene: NDUFC2.
Possible mitochondrial disorder, nuclear genes v1.27 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
Possible mitochondrial disorder, nuclear genes v1.26 NDUFC2 Sarah Leigh Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v1.25 NDUFC2 Sarah Leigh Publications for gene: NDUFC2 were set to
Possible mitochondrial disorder, nuclear genes v1.21 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
Possible mitochondrial disorder, nuclear genes v0.134 NDUFC2 Carl Fratter reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.64 NDUFC2 Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.64 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 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.64 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 NDUFC2 Ivone Leong reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.3 NDUFC2 Ivone Leong gene: NDUFC2 was added
gene: NDUFC2 was added to Possible mitochondrial disorder - nuclear genes. 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