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| Renal tubulopathies v1.134 | KLHL3 | Eleanor Williams Classified gene: KLHL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.134 | KLHL3 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.134 | KLHL3 | Eleanor Williams Gene: klhl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.133 | KLHL3 | Eleanor Williams Publications for gene: KLHL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.132 | KLHL3 | Eleanor Williams Mode of inheritance for gene: KLHL3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.131 | KLHL3 |
Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM. Many reports of cases in OMIM. Both monoallelic and biallelic.; to: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM. Many reports of cases in OMIM. Both monoallelic and biallelic. PMID: 22266938 - Boyden et al 2012 - report on a cohort of 52 PHAII kindreds including 126 affected subjects with renal hyperkalemia and otherwise normal renal function; hypertension and acidosis were present in 71% and 82%, respectively. They identified both dominant and recessive mutations in the KLHL3 gene. PMID: 22406640 - Louis-Dit-Picard et al 2012 - report missense mutations in the KLHL3 gene in affected individuals from 16 families with hyperkalemic hypertension (out of 45 investigated). The variants were present in heterozygosity in 12 of the families and in homozygosity in 4. |
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| Renal tubulopathies v1.82 | KLHL3 |
Eleanor Williams commented on gene: KLHL3: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM. Many reports of cases in OMIM. Both monoallelic and biallelic. |
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| Renal tubulopathies v1.82 | CUL3 |
Eleanor Williams commented on gene: CUL3: Associated with Pseudohypoaldosteronism, type IIE 614496 in OMIM PMID: 22266938 - Boyden et al 2012 - used exome sequencing to study a cohort of 52 PHAII kindreds, including 126 affected subjects with renal hyperkalemia. They identified seventeen with novel heterozygous mutations, all in cases without KLHL3, WNK1 or WNK4 mutations. Eight of these mutations were documented to be de novo. |
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| Renal tubulopathies v1.50 | KLHL3 | Eleanor Williams Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, 614495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | KLHL3 | Eleanor Williams reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IID, MIM 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | KLHL3 |
Eleanor Williams gene: KLHL3 was added gene: KLHL3 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: KLHL3 was set to |
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