Mitochondrial disorders
Gene: NDUFA12
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in five unrelated cases, together with supportive studies. Phenotypic variability was evident in the cases reported (PMID: 21617257; 33715266).Created: 20 Apr 2021, 4:50 p.m. | Last Modified: 20 Apr 2021, 4:50 p.m.
Panel Version: 2.27
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 20 Apr 2021, 4:47 p.m. | Last Modified: 20 Apr 2021, 4:47 p.m.
Panel Version: 2.27
Comment on phenotypes: Isolated complex I deficiency;Created: 20 Apr 2021, 1:57 p.m. | Last Modified: 20 Apr 2021, 1:57 p.m.
Panel Version: 2.26
7 individuals from 4 families reported with homozygous variants in addition to the family reported in 2011.Created: 17 Apr 2021, 8 a.m. | Last Modified: 17 Apr 2021, 8 a.m.
Panel Version: 2.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 23 MIM#618244
Publications
This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is only one case (PMID: 21617257) of a Pakistani patient with a variant in this gene who has complex I deficiency type 23 manifesting as Leigh syndrome. Therefore, this gene will remain a red gene until further evidence is available.Created: 2 May 2019, 2:02 p.m.
Comment on phenotypes: "Leigh syndrome due to mitochondrial complex 1 deficiency, 256000" has been removed as the OMIM number does not relate to this gene. The OMIM "?Mitochondrial complex I deficiency, nuclear type 23, 618244" is what is reported for this gene in OMIM.Created: 2 May 2019, 1:23 p.m.
Tag Q2_21_rating was removed from gene: NDUFA12.
Source NHS GMS was added to NDUFA12. Source Expert Review Green was added to NDUFA12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Publications for gene: NDUFA12 were set to 21617257; 33715266
Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: NDUFA12.
Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627
Publications for gene: NDUFA12 were set to 21617257
Mode of inheritance for gene: NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to
Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 to Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Victorian Clinical Genetics Services was added to NDUFA12. Panel: Mitochondrial disorders
NDUFA12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFA12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFA12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen