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| Renal tubulopathies v1.139 | NR3C2 | Eleanor Williams Classified gene: NR3C2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.139 | NR3C2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.139 | NR3C2 | Eleanor Williams Gene: nr3c2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.138 | NR3C2 | Eleanor Williams Added comment: Comment on mode of inheritance: Only one report of biallelic mutations, and in that case there were 3 in the patient, and were reported to occur in healthy populations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.138 | NR3C2 | Eleanor Williams Mode of inheritance for gene: NR3C2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.137 | NR3C2 | Eleanor Williams Publications for gene: NR3C2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.136 | NR3C2 |
Eleanor Williams changed review comment from: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM. The gene is also known as MCR. Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM.; to: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM. The gene is also known as MCR. Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM. No inheritance pattern listed in OMIM. However, most reports are for monoallelic inheritance (PMID: 9662404, 12788847, 16972228, 16954160). The only report of a biallelic case (PMID: 12483305 Arai et al 2003) was found in In a Japanese patient with sporadic PHA. 3 homozygous substitutions were found that had previously been reported to occur in healthy populations. The authors suggested that 2 or more 'functional' polymorphisms, any of which exhibits only slight effects on function alone and is incapable of causing PHA, may in the right allelic combination induce the negative salt conservation characteristic of PHA. |
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| Renal tubulopathies v1.82 | NR3C2 |
Eleanor Williams commented on gene: NR3C2: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM. The gene is also known as MCR. Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM. |
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| Renal tubulopathies v1.51 | NR3C2 | Eleanor Williams Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, 177735; Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | NR3C2 | Eleanor Williams reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM 177735, Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy MIM 605115 no inheritance pattern; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | NR3C2 |
Eleanor Williams gene: NR3C2 was added gene: NR3C2 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: NR3C2 was set to |
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