GLRA1

glycine receptor alpha 1
OMIM: 138491, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GLRA1 in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.15	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Hyperekplexia 1, 149400
Red GLRA1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Expert Review Green Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLRA1-related hyperexplexia, biallelic, OMIM:149400 GLRA1-related hyperexplexia, monoallelic, OMIM:149400
Amber GLRA1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Phenotypes Hyperekplexia, hereditary 1, 149400 Hyperekplexia developmental delay infantile spasms and generalized tonic-clonic seizures
Red GLRA1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Literature Phenotypes Hyperekplexia developmental delay infantile spasms and generalized tonic-clonic seizures
Green GLRA1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Hyperekplexia 1, 149400 Hyperekplexia, hereditary 1, 149400
Red GLRA1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Hyperekplexia, hereditary 1, 149400
Red GLRA1 in Paediatric or syndromic cardiomyopathy Version 3.46 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red London South GLH Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Hyperekplexia, hereditary 1, 149400
Green GLRA1 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 Hyperekplexia 1, 149400