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Renal tubulopathies v1.194 SCNN1G Eleanor Williams Added comment: Comment on mode of inheritance: Updating the MOI as both Pseudohypoaldosteronism, type I (biallelic) and Liddle syndrome 2 (monoallelic) are relevant to the panel.
Renal tubulopathies v1.194 SCNN1G Eleanor Williams Mode of inheritance for gene: SCNN1G was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies v1.191 SCNN1G Eleanor Williams Publications for gene: SCNN1G were set to 8640238; 29582446
Renal tubulopathies v1.190 SCNN1G Eleanor Williams Classified gene: SCNN1G as Green List (high evidence)
Renal tubulopathies v1.190 SCNN1G Eleanor Williams Added comment: Comment on list classification: Changing rating from Amber to Green as the Liddle syndrome cases are relevant to this panel.
Renal tubulopathies v1.190 SCNN1G Eleanor Williams Gene: scnn1g has been classified as Green List (High Evidence).
Renal tubulopathies v1.189 SCNN1G Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.

Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature.
; to: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.

Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature. More than 3 cases reported.
Renal tubulopathies v1.157 SCNN1G Eleanor Williams Classified gene: SCNN1G as Amber List (moderate evidence)
Renal tubulopathies v1.157 SCNN1G Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 3 cases of Pseudohypoaldosteronism are linked with possible founder effect mutation, 1 other cases. GMS submitted gene with Pseudohypoaldosteronism phenotype only listed. Variants in the gene also linked with Liddle syndrome 2 which may also be relevant to this panel.
Renal tubulopathies v1.157 SCNN1G Eleanor Williams Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.156 SCNN1G Eleanor Williams Publications for gene: SCNN1G were set to
Renal tubulopathies v1.155 SCNN1G Eleanor Williams Mode of inheritance for gene: SCNN1G was changed from to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.154 SCNN1G Eleanor Williams changed review comment from: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.; to: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.

Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature.
Renal tubulopathies v1.82 SCNN1G Eleanor Williams commented on gene: SCNN1G: Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.

PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.
Renal tubulopathies v1.56 SCNN1G Eleanor Williams Phenotypes for gene: SCNN1G were changed from to Pseudohypoaldosteronism, type I, 264350
Renal tubulopathies v1.16 SCNN1G Eleanor Williams reviewed gene: SCNN1G: 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 SCNN1G Eleanor Williams gene: SCNN1G was added
gene: SCNN1G was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SCNN1G was set to