GLS_GCA

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red GLS_GCA STR in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red GLS_GCA STR in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red GLS_GCA STR in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red GLS_GCA STR in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags STR NGS Not Validated