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Renal tubulopathies v5.10 OCRL Eleanor Williams Tag Q2_25_ promote_green was removed from gene: OCRL.
Tag Q2_25_ NHS_review was removed from gene: OCRL.
Renal tubulopathies v5.10 OCRL Eleanor Williams commented on gene: OCRL: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Renal tubulopathies v5.9 OCRL Eleanor Williams Source Expert Review Green was added to OCRL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal tubulopathies v5.5 OCRL Arina Puzriakova Phenotypes for gene: OCRL were changed from Dent disease 2, 300555. Lowe syndrome, 309000 to Dent disease 2, OMIM:300555
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 Classified gene: OCRL as Amber List (moderate evidence)
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 v5.3 OCRL Arina Puzriakova Gene: ocrl has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v5.2 OCRL Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: OCRL.
Tag Q2_25_ NHS_review tag was added to gene: OCRL.
Renal tubulopathies v5.1 OCRL Beccy Cummings reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Renal tubulopathies v1.142 OCRL Eleanor Williams Publications for gene: OCRL were set to
Renal tubulopathies v1.141 OCRL Eleanor Williams Mode of inheritance for gene: OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal tubulopathies v1.140 OCRL Eleanor Williams Classified gene: OCRL as Red List (low evidence)
Renal tubulopathies v1.140 OCRL 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 v1.140 OCRL Eleanor Williams Gene: ocrl has been classified as Red List (Low Evidence).
Renal tubulopathies v1.82 OCRL Eleanor Williams commented on gene: OCRL: Associated with Dent disease 2 #300555 and Lowe syndrome #309000 in OMIM both with reported renal clinical features.

Many cases of association between variants in OCRL and these diseases reported in OMIM.
e.g. PMID: 10364518 (Satre et al 1999) reports on 8 famlies with Lowe Syndrome. Five of these eight pedigrees had a family history of at least two male patients carrying a clinical diagnosis of Lowe syndrome on the basis of the classic triad of defects affecting lens, brain and kidney. Seven new mutations and one recurrent mutation were identified in the OCRL1 gene in one carrier mother and in seven affected patients. They identified a germ-line mosaicism in one family.
Renal tubulopathies v1.52 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from to Dent disease 2, 300555. Lowe syndrome, 309000
Renal tubulopathies v1.16 OCRL Eleanor Williams reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease 2, MIM 300555. Lowe syndrome, MIM 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Renal tubulopathies v1.15 OCRL Eleanor Williams gene: OCRL was added
gene: OCRL was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: OCRL was set to