This Panel is marked as Internal
Dystonia - childhood onset
Gene: MAT1A
MAT1A (methionine adenosyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 11 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 610550
- Clinvar variants
- Variants in MAT1A
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MAT1A was added gene: MAT1A was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Unknown Phenotypes for gene: MAT1A were set to Dystonia