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| Aminoacidopathy v1.124 | XPNPEP3 | Zornitza Stark Marked gene: XPNPEP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.124 | XPNPEP3 | Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.124 | XPNPEP3 | Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.124 | XPNPEP3 | Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | XPNPEP3 |
Sangavi Sivagnanasundram gene: XPNPEP3 was added gene: XPNPEP3 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 32660933; 20179356 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MONDO:0013163 Review for gene: XPNPEP3 was set to GREEN Added comment: XPNPEP3 is member of the X-pro-aminopeptidases family. A total of 3 unrelated families (with different variants) reported with abnormal renal function due to an inborn error of peptide metabolism 32660933 - individual case with a rare frameshift variant p.Q241Tfs*13 who also had evidence of an inborn error of peptide metabolism. Sources: Other |
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