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| Intellectual disability v8.200 | MARS2 |
Achchuthan Shanmugasundram changed review comment from: Comment on publications: PMID:39995633 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. The patient reported in PMID:39995633 presented with psychomotor developmental delay, growth failure, and generalized skeletal alterations. Genetic analyses showed novel biallelic variants, c.277G > A; p.(Asp93Asn) and c.409C > T; p.(Arg137Cys) in the MARS2 gene. These variants were inherited from the patient's parents, with one variant detected in the mother and the other in the father, both heterozygous.; to: Comment on publications: PMID:39995633 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. The patient reported in PMID:39995633 presented with psychomotor developmental delay, growth failure, and generalized skeletal alterations. However, this patient was not reported with intellectual disability in the publication. Genetic analyses showed novel biallelic variants, c.277G > A; p.(Asp93Asn) and c.409C > T; p.(Arg137Cys) in the MARS2 gene. These variants were inherited from the patient's parents, with one variant detected in the mother and the other in the father, both heterozygous. |
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| Intellectual disability v8.200 | MARS2 |
Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39995633 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. The patient reported in PMID:39995633 presented with psychomotor developmental delay, growth failure, and generalized skeletal alterations. Genetic analyses showed novel biallelic variants, c.277G > A; p.(Asp93Asn) and c.409C > T; p.(Arg137Cys) in the MARS2 gene. These variants were inherited from the patient's parents, with one variant detected in the mother and the other in the father, both heterozygous. |
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| Intellectual disability v8.200 | MARS2 | Achchuthan Shanmugasundram Publications for gene: MARS2 were set to 25754315 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.199 | MARS2 | Achchuthan Shanmugasundram reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: None; Publications: 39995633; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.895 | MARS2 | Sarah Leigh Source: Expert Review Amber was removed from gene: MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | MARS2 | BRIDGE consortium edited their review of MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | MARS2 | BRIDGE consortium edited their review of MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | MARS2 | Louise Daugherty classified MARS2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | MARS2 | Louise Daugherty commented on MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | MARS2 | BRIDGE consortium reviewed MARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||