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Intellectual disability v8.187 HINT1 Sarah Leigh Added comment: Comment on publications: PMID: 39596683 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.
Intellectual disability v8.187 HINT1 Sarah Leigh Publications for gene: HINT1 were set to 22961002; 34694653; 39596683
Intellectual disability v8.177 HINT1 Sarah Leigh reviewed gene: HINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.177 HINT1 Sarah Leigh Publications for gene: HINT1 were set to 22961002; 34694653; 39596683
Intellectual disability v8.176 HINT1 Sarah Leigh Phenotypes for gene: HINT1 were changed from Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 to Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200; Gamstorp-Wohlfart syndrome, MONDO:0007646
Intellectual disability v8.175 HINT1 Sarah Leigh Publications for gene: HINT1 were set to
Intellectual disability HINT1 BRIDGE consortium edited their review of HINT1
Intellectual disability HINT1 BRIDGE consortium edited their review of HINT1
Intellectual disability HINT1 Louise Daugherty classified HINT1 as amber
Intellectual disability HINT1 Louise Daugherty commented on HINT1
Intellectual disability HINT1 BRIDGE consortium reviewed HINT1