Activity
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13 actions
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| Early onset or syndromic epilepsy v7.29 | GLS | Achchuthan Shanmugasundram Classified gene: GLS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.29 | GLS | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLS variants and with epilepsy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.29 | GLS | Achchuthan Shanmugasundram Gene: gls has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.28 | GLS | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: GLS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.28 | GLS | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39559284 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.28 | GLS | Achchuthan Shanmugasundram Publications for gene: GLS were set to 30575854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.27 | GLS | Achchuthan Shanmugasundram reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39559284; Phenotypes: Developmental and epileptic encephalopathy 71, OMIM:618328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.464 | GLS | Arina Puzriakova Phenotypes for gene: GLS were changed from Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678 to Developmental and epileptic encephalopathy 71, OMIM:618328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.257 | GLS | Arina Puzriakova Classified gene: GLS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.257 | GLS |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Biallelic variants identified in two families with three individuals affected by neonatal lethal epileptic encephalopathy and respiratory insufficiency (PMID: 30575854). The variants were predicted to result in loss of function, supported by elevated glutamine in all cases. Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade. |
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| Early onset or syndromic epilepsy v2.257 | GLS | Arina Puzriakova Gene: gls has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.256 | GLS | Arina Puzriakova Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328 to Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | GLS |
Zornitza Stark gene: GLS was added gene: GLS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30575854 Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328 Review for gene: GLS was set to AMBER Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels. Sources: Expert list |
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