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Genetic Epilepsy v1.146 UGGT1 Krithika Murali reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:40267907; Phenotypes: Congenital disorder of glycosylation - MONDO:0015286, UGGT1-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.146 UGGT1 Krithika Murali Classified gene: UGGT1 as Green List (high evidence)
Genetic Epilepsy v1.146 UGGT1 Krithika Murali Gene: uggt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2313 UGGT1 Elena Savva Marked gene: UGGT1 as ready
Genetic Epilepsy v0.2313 UGGT1 Elena Savva Gene: uggt1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2313 UGGT1 Elena Savva gene: UGGT1 was added
gene: UGGT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UGGT1 was set to Unknown
Review for gene: UGGT1 was set to RED
Added comment: Gene was on the Oliver list for epilepsy genes.

No gene-disease association paper has been published.

GnomAD NOT constrained for LOF variants.
Sources: Literature