Adult onset dystonia, chorea or related movement disorder
Gene: MAT1AEnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 11 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, 4:38 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)
Most patients have no clinical abnormalities.AR form can have Neurologic abnormalities but not clear how common movement disorder is within these patientsCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
Publications
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
- Dystonia
- OMIM
- 610550
- Clinvar variants
- Variants in MAT1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A Publications for gene MAT1A were changed from to 26289392
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MAT1A.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MAT1A.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MAT1A was added gene: MAT1A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Phenotypes for gene: MAT1A were set to Dystonia