White matter disorders and cerebral calcification - narrow panel
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Calcifications in basal ganglia
- Methionine adenosyltransferase deficiency, autosomal recessive
- OMIM
- 610550
- Clinvar variants
- Variants in MAT1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MAT1A was added gene: MAT1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Unknown Publications for gene: MAT1A were set to 8770875 Phenotypes for gene: MAT1A were set to Calcifications in basal ganglia; Methionine adenosyltransferase deficiency, autosomal recessive