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Renal tubulopathies v1.47 | KCNA1 | Eleanor Williams Phenotypes for gene: KCNA1 were changed from to Autosomal dominant hypomagnesemia; Episodic ataxia/myokymia syndrome,160120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.46 | KCNA1 | Eleanor Williams Publications for gene: KCNA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.16 | KCNA1 | Eleanor Williams reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: Glaudemans et al J Clin Invest.2009 Apr 119(4):936-42. PMID 19307729 ; Phenotypes: Autosomal dominant hypomagnesemia (no MIM #), Episodic ataxia/myokymia syndrome MIM 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.15 | KCNA1 |
Eleanor Williams gene: KCNA1 was added gene: KCNA1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: KCNA1 was set to |