GLS

glutaminase
OMIM: 138280, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber GLS in Cataract Level 2: Ophthalmological disorders Version 1.0	2 reviews	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 2.0	2 reviews	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 CASGID syndrome MIM#618339
Green GLS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	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 2.0	2 reviews	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 2.0	1 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 2.0	3 reviews	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 GLS_GDPAG_GCA STR in Mendeliome Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags paediatric-onset
Green GLS_GDPAG_GCA STR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Green GLS_GDPAG_GCA STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Green GLS_GDPAG_GCA STR in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Green GLS_GDPAG_GCA STR in Repeat Disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags paediatric-onset
Green GLS_GDPAG_GCA STR in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412