Intracerebral calcification disorders
Gene: MAT1AEnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: A patient with Methionine adenosyltransferase deficiency, autosomal recessive reported to have calcification of basal ganglia in PMID: 8770875. Does not seem to be enough evidence to date.Created: 7 Dec 2016, 10:04 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Calcifications in basal ganglia
- Methionine adenosyltransferase deficiency, autosomal recessive
- OMIM
- 610550
- Clinvar variants
- Variants in MAT1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Intracerebral calcification disorders
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MAT1A were set to 8770875
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAT1A were set to Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAT1A were set to Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAT1A were set to Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive
Added New Source
Olivia Niblock (Genomics England Curator)MAT1A was added to Intracerebral calcification disorderspanel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)MAT1A was created by oniblock