Mitochondrial disorder with complex I deficiency
Gene: NDUFA12EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
6 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, 11:34 a.m. | Last Modified: 1 Feb 2023, 11:34 a.m.
Panel Version: 2.3
Arina Puzriakova (Genomics England Curator)
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.17
At least 17 individuals from 11 unrelated families identified with different homozygous variants in this gene. Phenotypic variability was evident among cases ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy - although there are sufficient cases presenting with each feature to make Green on the respective gene panels (PMID: 21617257; 33715266; 35141356).Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Publications
Variants in this GENE are reported as part of current diagnostic practice
Carl Fratter (Oxford University Hospitals NHS Trust)
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 23, 618244
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: 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, 9:53 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 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 10:49 a.m.
Ivone Leong (Genomics England Curator)
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: NDUFA12; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 23, 618244
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- 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
- Optic neuropathy
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: NDUFA12. Tag Q3_22_NHS_review was removed from gene: NDUFA12.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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, 618244 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
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: NDUFA12. Tag Q3_22_NHS_review tag was added to gene: NDUFA12.
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: NDUFA12 were set to
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFA12 was added gene: NDUFA12 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244