Adult onset dystonia, chorea or related movement disorder
Gene: SUCLG1EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 2019Created: 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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), onset in infancyCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
- OMIM
- 611224
- Clinvar variants
- Variants in SUCLG1
- Penetrance
- None
- Panels with this gene
-
- Hyperammonaemia
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial DNA maintenance disorder
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SUCLG1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SUCLG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SUCLG1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SUCLG1 was added gene: SUCLG1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal