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Renal tubulopathies v1.149 | SCNN1A | Eleanor Williams Classified gene: SCNN1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.149 | SCNN1A | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.149 | SCNN1A | Eleanor Williams Gene: scnn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.148 | SCNN1A | Eleanor Williams Publications for gene: SCNN1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.147 | SCNN1A | Eleanor Williams Mode of inheritance for gene: SCNN1A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.82 | SCNN1A |
Eleanor Williams edited their review of gene: SCNN1A: Added comment: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM. 8 cases reported in OMIM (PMIDs 8589714 and 10586178).; Changed phenotypes: Pseudohypoaldosteronism, type I, MIM 264350, ? Liddle syndrom 3, MIM 618126, Bronchiectasis with or without elevated sweat chloride 2 MIM 613021 |
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Renal tubulopathies v1.54 | SCNN1A | Eleanor Williams Phenotypes for gene: SCNN1A were changed from to Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrom 3, 618126; Bronchiectasis with or without elevated sweat chloride 2 613021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.16 | SCNN1A | Eleanor Williams reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM 264350, ? Liddle syndrom 3, MIM 618126, Bronchiectasis with or without elevated sweat chloride 2 MIM 613021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.15 | SCNN1A |
Eleanor Williams gene: SCNN1A was added gene: SCNN1A was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SCNN1A was set to |