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| Renal tubulopathies v1.188 | WNK4 | Eleanor Williams Classified gene: WNK4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.188 | WNK4 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.188 | WNK4 | Eleanor Williams Gene: wnk4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.187 | WNK4 | Eleanor Williams Publications for gene: WNK4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.186 | WNK4 | Eleanor Williams Mode of inheritance for gene: WNK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.185 | WNK4 |
Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM. PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat; to: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM. PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat |
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| Renal tubulopathies v1.82 | WNK4 |
Eleanor Williams commented on gene: WNK4: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM. PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat |
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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 v1.70 | WNK4 | Eleanor Williams Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, 614491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | WNK4 | Eleanor Williams reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | WNK4 |
Eleanor Williams gene: WNK4 was added gene: WNK4 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: WNK4 was set to |
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