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  2. Adult onset dystonia, chorea or related movement disorder
  3. NDUFA1
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Adult onset dystonia, chorea or related movement disorder

Gene: NDUFA1

Red List (low evidence)
NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)
EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.100

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency - onset in first year of life
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.98

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. There are multiple studies were the heterozygous mother of the affected male proband was unaffected [PMID: 17262856; 19185523]. One study does report a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Created: 1 Apr 2019, 3:30 p.m.
Created: 1 Apr 2019, 3:30 p.m.

Panel version: 0.44

History Filter Activity

13 Aug 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to NDUFA1. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NDUFA1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to NDUFA1.

1 Apr 2019, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NDUFA1 were set to 28247337; 17262856

1 Apr 2019, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NDUFA1 was added gene: NDUFA1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NDUFA1 were set to 28247337; 17262856 Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency