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Intellectual disability v8.84 SLC5A7 Arina Puzriakova Publications for gene: SLC5A7 were set to 30914295; 27569547; 39135055
Intellectual disability v8.83 SLC5A7 Arina Puzriakova Tag watchlist was removed from gene: SLC5A7.
Tag Q1_25_ promote_green tag was added to gene: SLC5A7.
Intellectual disability v8.83 SLC5A7 Arina Puzriakova edited their review of gene: SLC5A7: Changed rating: GREEN; Changed publications to: 27569547, 39135055, 36840359, 36611016, 33250374; Changed phenotypes to: Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.83 SLC5A7 Arina Puzriakova commented on gene: SLC5A7: Some patients with SLC5A7-related CMS can exhibit developmental delay and cognitive impairment (PMID: 27569547; 39135055; 36840359; 36611016; 33250374). Although this feature is not universal, there are sufficient unrelated cases where cognitive deficit is an defining feature of the early phenotype, to warrant inclusion of SLC5A7 on this panel.
Intellectual disability v8.83 SLC5A7 Arina Puzriakova Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Intellectual disability v8.82 SLC5A7 Arina Puzriakova Mode of inheritance for gene: SLC5A7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.81 SLC5A7 Arina Puzriakova Added comment: Comment on publications: PMID:39135055 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 v8.81 SLC5A7 Arina Puzriakova Publications for gene: SLC5A7 were set to 30914295; 27569547
Intellectual disability v2.981 SLC5A7 Catherine Snow Tag watchlist tag was added to gene: SLC5A7.
Intellectual disability v2.979 SLC5A7 Catherine Snow Mode of inheritance for gene SLC5A7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.978 SLC5A7 Catherine Snow gene: SLC5A7 was added
gene: SLC5A7 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SLC5A7 was set to
Publications for gene: SLC5A7 were set to 30914295; 27569547
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143