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| Renal tubulopathies v2.40 | WNK1 | Arina Puzriakova Phenotypes for gene: WNK1 were changed from Pseudohypoaldosteronism, type IIC, 614492 to Pseudohypoaldosteronism, type IIC, OMIM:614492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.185 | WNK1 | Eleanor Williams Classified gene: WNK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.185 | WNK1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber as two cases (both with deletions) have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.185 | WNK1 | Eleanor Williams Gene: wnk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.184 | WNK1 | Eleanor Williams Publications for gene: WNK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.183 | WNK1 | Eleanor Williams Added comment: Comment on phenotypes: Removed a phenotype that I think is not relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.183 | WNK1 | Eleanor Williams Phenotypes for gene: WNK1 were changed from Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 (AR) to Pseudohypoaldosteronism, type IIC, 614492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.182 | WNK1 | Eleanor Williams Mode of inheritance for gene: WNK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | WNK1 |
Eleanor Williams commented on gene: WNK1: Associated with Pseudohypoaldosteronism, type IIC (#614492) in OMIM, PMID: 11498583 - Wilson et al - 2001 - in one large family with 10 members affected by pseudohypoaldosteronism type II they identified a 41-kb deletion in intron 1 of WNK1 that segregated with the disease. In another family previously described by Disse-Nicodeme et al. (2000), they identified a 22-kb deletion within intron 1 of WNK1. Functional studies showed this deletion increased the expression of WNK1. |
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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 v1.69 | WNK1 | Eleanor Williams Phenotypes for gene: WNK1 were changed from to Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | WNK1 | Eleanor Williams reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIC, MIM 614492, Neuropathy, hereditary sensory and autonomic, type II, MIM 201300 (AR); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | WNK1 |
Eleanor Williams gene: WNK1 was added gene: WNK1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: WNK1 was set to |
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