Mitochondrial disorder with complex I deficiency
Gene: NDUFC2
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Green rating of this gene on this panel.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 36, OMIM: 619170
Publications
Variants in this GENE are reported as part of current diagnostic practice
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.15
Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021Created: 9 Feb 2021, 4:43 p.m. | Last Modified: 9 Feb 2021, 4:43 p.m.
Panel Version: 1.9
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 26 Jan 2021, 12:01 p.m. | Last Modified: 26 Jan 2021, 12:01 p.m.
Panel Version: 1.4
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).Created: 26 Jan 2021, 11:59 a.m. | Last Modified: 9 Feb 2021, 4:55 p.m.
Panel Version: 1.9
Suggest update to green in view of recent publicationCreated: 24 Jan 2021, 4:42 p.m. | Last Modified: 24 Jan 2021, 4:42 p.m.
Panel Version: 1.3
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Aware of 2 unreported familes with complex I deficiencyCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
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.Created: 10 May 2019, 10:23 a.m.
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.Created: 29 Mar 2019, 11:07 a.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFC2; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)Created: 4 Feb 2016, 8:40 p.m.
Tag for-review was removed from gene: NDUFC2. Tag Q2_21_rating was removed from gene: NDUFC2.
Source Expert Review Green was added to NDUFC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: NDUFC2.
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
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
Publications for gene: NDUFC2 were set to
Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype to No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I
Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NDUFC2.
Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
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