Activity
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10 actions
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| Monogenic short stature v1.29 | SLC13A1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC13A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.27 | SLC13A1 | Ida Ertmanska reviewed gene: SLC13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | SLC13A1 | Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: SLC13A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | SLC13A1 | Ida Ertmanska reviewed gene: SLC13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.25 | SLC13A1 |
Ida Ertmanska Source Expert Review Green was added to SLC13A1. Source NHS GMS was added to SLC13A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic short stature v1.8 | SLC13A1 | Sarah Leigh Added comment: Comment on publications: PMID: 39925707 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.8 | SLC13A1 | Sarah Leigh Publications for gene: SLC13A1 were set to 39925707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.7 | SLC13A1 | Sarah Leigh Classified gene: SLC13A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.7 | SLC13A1 | Sarah Leigh Gene: slc13a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.6 | SLC13A1 |
Sarah Leigh gene: SLC13A1 was added gene: SLC13A1 was added to Monogenic short stature. Sources: Literature Q1_25_ promote_green tags were added to gene: SLC13A1. Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A1 were set to 39925707 Phenotypes for gene: SLC13A1 were set to impaired sulfate transport and skeletal dysplasia Review for gene: SLC13A1 was set to GREEN Added comment: PMID: 39925707 reports five biallelic SLC13A1 variants in five children with skeletal phenotypes from four unrelated families. Inheritance of the variants from the parents has been established in all cases. Functional studies suggested that the SLC13A1 variants resulted in complete loss of sulfate transport activity, evidence of this was seen when two of the probands were tested and found to have reduction in plasma sulfate level and/or increase in urinary sulfate excretion (PMID: 39925707). Sources: Literature |
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