Miscellaneous Metabolic Disorders
Gene: GLUL
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
At least 5 cases in 4 families have been reported with glutamine deficiency.
Sources: NHS GMSCreated: 4 Feb 2021, 10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: glul has been classified as Green List (High Evidence).
Gene: glul has been classified as Green List (High Evidence).
gene: GLUL was added gene: GLUL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 16267323; 21353613; 33150193 Phenotypes for gene: GLUL were set to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism Review for gene: GLUL was set to GREEN gene: GLUL was marked as current diagnostic