MAT1A

methionine adenosyltransferase 1A
OMIM: 610550, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red MAT1A in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Red MAT1A in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	Unknown	Sources Expert Review Red Phenotypes Calcifications in basal ganglia Methionine adenosyltransferase deficiency, autosomal recessive
Red MAT1A in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.35	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Calcifications in basal ganglia Methionine adenosyltransferase deficiency, autosomal recessive
Red MAT1A in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia
Green MAT1A in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850 Methionine adenosyltransferase deficiency, autosomal recessive 250850
Green MAT1A in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Amber MAT1A in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Green MAT1A in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850
Green MAT1A in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Red MAT1A in Adult onset dystonia, chorea or related movement disorder Version 3.19 Latest signed off version: v3.12 (31 Jul 2023)	review	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 Dystonia
Red MAT1A in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Unknown	Sources South West GLH Expert Review Red London North GLH Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
Green MAT1A in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850