GLS

glutaminase
OMIM: 138280, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber GLS in Ataxia and cerebellar anomalies - narrow panel Version 4.59 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags STR watchlist
Red GLS in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	Unknown	Sources Literature Phenotypes Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
Amber GLS in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
Red GLS in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	Unknown	Sources Expert Review Red GDL Corneal Abnormalities panel Phenotypes Corneal dystrophy abstract Tags watchlist
Amber GLS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags watchlist STR watchlist_moi
Green GLS 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags STR watchlist_moi
Amber GLS 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Developmental and epileptic encephalopathy 71, OMIM:618328
Amber GLS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags watchlist STR watchlist_moi
Red GLS_GCA STR in Ataxia and cerebellar anomalies - narrow panel Version 4.59 Latest signed off version: v4.0 (22 Mar 2023) 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 STR NGS Not Validated
Red GLS_GCA STR 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	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
Red GLS_GCA STR in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) 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