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 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Infantile cataracts
Green GLS in Mendeliome Version 1.1891	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
Amber GLS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Epileptic encephalopathy, early infantile, 71, MIM# 618328
Green GLS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Green GLS in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes glutaminase deficiency MONDO:0600001
Green GDPAG STR in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 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 0.167	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags paediatric-onset