| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide metabolism disorders v0.8 | SLC29A1 | Zornitza Stark Marked gene: SLC29A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.8 | SLC29A1 | Zornitza Stark Gene: slc29a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.8 | SLC29A1 | Zornitza Stark Phenotypes for gene: SLC29A1 were changed from to Disorders of ectonucleotide and nucleic acid metabolism; Equilibrative nucleoside transporter 1 deficiency MONDO:0019052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.7 | SLC29A1 | Zornitza Stark Publications for gene: SLC29A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.6 | SLC29A1 | Zornitza Stark Mode of inheritance for gene: SLC29A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.5 | SLC29A1 |
Sangavi Sivagnanasundram changed review comment from: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. Not enough evidence 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.; to: 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.5 | SLC29A1 | Sangavi Sivagnanasundram reviewed gene: SLC29A1: Rating: RED; Mode of pathogenicity: None; Publications: 35955904, 25896650; Phenotypes: Disorders of ectonucleotide and nucleic acid metabolism, Equilibrative nucleoside transporter 1 deficiency MONDO:0019052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nucleotide metabolism disorders v0.0 | SLC29A1 |
Bryony Thompson gene: SLC29A1 was added gene: SLC29A1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC29A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||