Miscellaneous Metabolic Disorders
Gene: GLS
In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.Created: 8 Jul 2020, 6:43 a.m. | Last Modified: 8 Jul 2020, 6:43 a.m.
Panel Version: 0.3278
Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).
Another three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188).
Sources: Expert listCreated: 2 Jan 2020, 11:35 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Catarct
Publications
Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: gls has been classified as Green List (High Evidence).
Gene: gls has been classified as Green List (High Evidence).
Publications for gene: GLS were set to
gene: GLS was added gene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism