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| Renal Tubulopathies and related disorders v1.8 | AVP | Zornitza Stark Marked gene: AVP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.8 | AVP | Zornitza Stark Gene: avp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.8 | AVP | Zornitza Stark Phenotypes for gene: AVP were changed from Diabetes insipidus, neurohypophyseal to Diabetes insipidus, neurohypophyseal MIM#125700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.7 | AVP | Zornitza Stark Classified gene: AVP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.7 | AVP | Zornitza Stark Gene: avp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.6 | AVP |
Ella Wilkins gene: AVP was added gene: AVP was added to Renal Tubulopathies and related disorders. Sources: Expert list Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal Review for gene: AVP was set to GREEN Added comment: Included due to phenotypic overlap with nephrogenic DI. Sources: Expert list |
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| Renal Tubulopathies and related disorders v0.4 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203 Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800 |
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