GLS

glutaminase
OMIM: 138280, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber GLS in Cataract Level 2: Ophthalmological disorders Version 0.373	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Green GLS in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328 Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412 Cataract
Green GLS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Green GLS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328 Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Green GLS in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Developmental and epileptic encephalopathy 71 MIM#618328 Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 disorder of amino acid metabolism
Green GLS in Aminoacidopathy Level 2: Metabolic disorders Version 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Glutaminase deficiency MONDO:0600001 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Green GDPAG STR in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Green GDPAG STR in Repeat Disorders Version 0.168	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags paediatric-onset