Genes in panel

Adult onset movement disorder

Gene: MAT1A

Red List (low evidence)

MAT1A (methionine adenosyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 RED
Created: 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)

Red List (low evidence)

Most patients have no clinical abnormalities.AR form can have Neurologic abnormalities but not clear how common movement disorder is within these patients
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850

Publications

History Filter Activity

23 Apr 2019, Gel status: 1

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

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MAT1A.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MAT1A.

3 Jan 2019, Gel status: 1

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