| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2573 | SLC29A1 | Zornitza Stark Marked gene: SLC29A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2573 | SLC29A1 | Zornitza Stark Gene: slc29a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2573 | SLC29A1 | Zornitza Stark Classified gene: SLC29A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2573 | SLC29A1 | Zornitza Stark Gene: slc29a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | SLC29A1 | Sangavi Sivagnanasundram edited their review of gene: SLC29A1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | SLC29A1 |
Sangavi Sivagnanasundram gene: SLC29A1 was added gene: SLC29A1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC29A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A1 were set to 35955904; 25896650 Phenotypes for gene: SLC29A1 were set to Disorders of ectonucleotide and nucleic acid metabolism; Equilibrative nucleoside transporter 1 deficiency MONDO:0019052 Review for gene: SLC29A1 was set to AMBER Added comment: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. More evidence is required to support the gene-disease association. - https://iembase.com/disorder/783 PMID: 35955904 Homozygous Glu391Lys responsible for the A-negative blood time in people of African ancestry however is not shown to alter the protein function. Affected individuals will likely not have any phenotypes except the A- blood type. Missense variant is present in gnomAD v4.1 (GrpMax FAF - 1.159% in African/African American Population) PMID: 25896650 3 sibs of European ancestry identified with homozygous c.589+1G>C (rare on gnomAD v4.1 for AR gene) No severe phenotype was observed however periarticular and ectopic mineralization was observed which important regarding bone homeostasis. Sources: Literature |
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