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Renal tubulopathies v5.10 CLCN5 Eleanor Williams Tag Q2_25_ promote_green was removed from gene: CLCN5.
Tag Q2_25_ NHS_review was removed from gene: CLCN5.
Renal tubulopathies v5.10 CLCN5 Eleanor Williams commented on gene: CLCN5: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Renal tubulopathies v5.9 CLCN5 Eleanor Williams Source Expert Review Green was added to CLCN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v5.4 CLCN5 Arina Puzriakova Phenotypes for gene: CLCN5 were changed from Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 to Dent disease 1, OMIM:300009
Renal tubulopathies v5.3 OCRL Arina Puzriakova changed review comment from: Comment on list classification: Upgrading from Red to Amber but this gene should be promoted to Green at the next GMS panel update, in line with the review by Beccy Cummings (NHS).

Variants in the CLCN5 gene cause Dent disease, a disorder of proximal renal tubular dysfunction, which could plausibly be picked up via this panel and therefore warrants inclusion.; to: Comment on list classification: Upgrading from Red to Amber but this gene should be promoted to Green at the next GMS panel update, in line with the review by Beccy Cummings (NHS).

Variants in the OCRL gene cause Dent disease, a disorder of proximal renal tubular dysfunction, which could plausibly be picked up via this panel and therefore warrants inclusion.
Renal tubulopathies v5.3 OCRL Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber but this gene should be promoted to Green at the next GMS panel update, in line with the review by Beccy Cummings (NHS).

Variants in the CLCN5 gene cause Dent disease, a disorder of proximal renal tubular dysfunction, which could plausibly be picked up via this panel and therefore warrants inclusion.
Renal tubulopathies v5.2 CLCN5 Arina Puzriakova Classified gene: CLCN5 as Amber List (moderate evidence)
Renal tubulopathies v5.2 CLCN5 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber but this gene should be promoted to Green at the next GMS panel update, in line with the review by Beccy Cummings (NHS).

Variants in the CLCN5 gene cause Dent disease, a disorder of proximal renal tubular dysfunction, which could plausibly be picked up via this panel and therefore warrants inclusion.
Renal tubulopathies v5.2 CLCN5 Arina Puzriakova Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v5.1 CLCN5 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: CLCN5.
Tag Q2_25_ NHS_review tag was added to gene: CLCN5.
Renal tubulopathies v5.1 CLCN5 Beccy Cummings reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Renal tubulopathies v1.95 CLCN5 Eleanor Williams Mode of inheritance for gene: CLCN5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Renal tubulopathies v1.94 CLCN5 Eleanor Williams Classified gene: CLCN5 as Red List (low evidence)
Renal tubulopathies v1.94 CLCN5 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel.
Renal tubulopathies v1.94 CLCN5 Eleanor Williams Gene: clcn5 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.82 CLCN5 Eleanor Williams commented on gene: CLCN5: Associated with Dent disease (#300009), Hypophosphatemic rickets (#300554), Nephrolithiasis, type I (#310468) and Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (#308990) in OMIM.

Many cases reported in OMIM.
Renal tubulopathies v1.31 CLCN5 Eleanor Williams Phenotypes for gene: CLCN5 were changed from Dent disease, MIM 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 to Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Renal tubulopathies v1.30 CLCN5 Eleanor Williams Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Renal tubulopathies v1.16 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease, MIM 300009. Hypophosphatemic rickets, MIM 300554. Nephrolithiasis, type I, MIM 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM 308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Renal tubulopathies v1.15 CLCN5 Eleanor Williams gene: CLCN5 was added
gene: CLCN5 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CLCN5 was set to