Adult onset dystonia, chorea or related movement disorder
Gene: NDUFA12EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:40 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
PMID 21617257 descibes a single patient. Two other variants on HGMD,but from large multi centre clinical exome studies and unable to confirm that they had movement disorder as a featureCreated: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 23, 618244
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Optic neuropathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- 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
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Leigh syndrome due to mitochondrial complex 1 deficiency 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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes ?Mitochondrial complex I deficiency, nuclear type 23, 618244 for gene: NDUFA12
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NDUFA12.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to NDUFA12.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NDUFA12 was added gene: NDUFA12 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 21617257 Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency