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| Hypertension and Aldosterone disorders v0.23 | NR3C2 | Zornitza Stark Marked gene: NR3C2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.23 | NR3C2 | Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.23 | NR3C2 | Zornitza Stark Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.22 | NR3C2 | Zornitza Stark Publications for gene: NR3C2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.21 | NR3C2 | Zornitza Stark Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.20 | NR3C2 | Zornitza Stark edited their review of gene: NR3C2: Changed phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.20 | NR3C2 |
Zornitza Stark changed review comment from: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I. Well established gene-disease association, over 50 unrelated families reported.; to: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I. Well established gene-disease association, over 50 unrelated families reported. Most reported variants are LoF. |
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| Hypertension and Aldosterone disorders v0.20 | NR3C2 | Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.0 | NR3C2 |
Zornitza Stark gene: NR3C2 was added gene: NR3C2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0 Mode of inheritance for gene: NR3C2 was set to Unknown |
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