Mitochondrial disorders
Gene: NDUFA12EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Ivone Leong (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Optic neuropathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: NDUFA12.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NDUFA12 were set to 21617257; 33715266
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: NDUFA12.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NDUFA12 were set to 21617257
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: NDUFA12 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to NDUFA12. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen