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| Renal tubulopathies v1.195 | SCNN1B | Eleanor Williams Added comment: Comment on mode of inheritance: Updating the mode of inheritance as both Pseudohypoaldosteronism, type I (biallelic) and Liddle syndrome 1 (monoallelic) are relevant to the panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.195 | SCNN1B | Eleanor Williams Mode of inheritance for gene: SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.154 | SCNN1B | Eleanor Williams Classified gene: SCNN1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.154 | SCNN1B | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.154 | SCNN1B | Eleanor Williams Gene: scnn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.153 | SCNN1B | Eleanor Williams Added comment: Comment on mode of inheritance: Mode of inheritance is for Pseudohypoaldosteronism, type I, which is the phenotype listed by the GMS group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.153 | SCNN1B | Eleanor Williams Mode of inheritance for gene: SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.152 | SCNN1B |
Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM. PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S). PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). . PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B. PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B.; to: Associated with Liddle syndrome 1 #177200 (AD) and Pseudohypoaldosteronism, type I #264350 (AR) in OMIM. Liddle syndrome 1 - 7 cases reported in OMIM. Pseudohypoaldosteronism, type I : PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S). PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). . PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B. PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B. |
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| Renal tubulopathies v1.152 | SCNN1B | Eleanor Williams Phenotypes for gene: SCNN1B were changed from genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing; Pseudohypoaldosteronism, type I, 264350 to Pseudohypoaldosteronism, type I, 264350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.151 | SCNN1B | Eleanor Williams Publications for gene: SCNN1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.150 | SCNN1B | Eleanor Williams Mode of inheritance for gene: SCNN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.149 | SCNN1B |
Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM. PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S). PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). . PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.; to: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM. PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S). PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). . PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B. PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B. |
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| Renal tubulopathies v1.82 | SCNN1B |
Eleanor Williams commented on gene: SCNN1B: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM. PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S). PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). . PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B. |
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| Renal tubulopathies v1.55 | SCNN1B | Eleanor Williams Phenotypes for gene: SCNN1B were changed from genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing to genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing; Pseudohypoaldosteronism, type I, 264350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | SCNN1B | Eleanor Williams reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | SCNN1B | Eleanor Williams Source NHS GMS was added to SCNN1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||