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| Unexplained young onset end-stage renal disease v4.3 | WDR72 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: WDR72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | WDR72 | Arina Puzriakova reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.2 | WDR72 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDR72. Source NHS GMS was added to WDR72. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v3.34 | WDR72 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis'(https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis' (https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.34 | WDR72 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis'(https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.32 | WDR72 | Achchuthan Shanmugasundram Classified gene: WDR72 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.32 | WDR72 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/), this gene should be promoted to green rating in this panel as well. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.32 | WDR72 | Achchuthan Shanmugasundram Gene: wdr72 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.31 | WDR72 | Achchuthan Shanmugasundram Phenotypes for gene: WDR72 were changed from Amelogenesis imperfecta, type IIA3, OMIM:613211 to hereditary distal renal tubular acidosis; distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.30 | WDR72 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: WDR72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.30 | WDR72 | Achchuthan Shanmugasundram edited their review of gene: WDR72: Changed phenotypes to: hereditary distal renal tubular acidosis, distal renal tubular acidosis, MONDO:0015827, Amelogenesis imperfecta, type IIA3, OMIM:613211, amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.30 | WDR72 | Achchuthan Shanmugasundram edited their review of gene: WDR72: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.30 | WDR72 |
Achchuthan Shanmugasundram gene: WDR72 was added gene: WDR72 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to 30028003; 30779877; 31959358; 33033857 Phenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, OMIM:613211 Review for gene: WDR72 was set to RED Added comment: Reviews from Eleanor Williams in 'R198 Renal tubulopathies' panel: Additional families reported with distal renal tubular acidosis, along with amelogenesis imperfecta. PMID: 30779877 (Zhang et al 2019) - 6 families (1 African, 5 Turkish) identified using WES with biallelic WDR72 variants. The affected members showed generalized hypomaturation Amelogenesis imperfecta. 2 families, although unrelated, shared the same variant. 3 out of the 8 tested patients showed decreased serum pH, consistent with a diagnosis of renal tubular acidosis. PMID: 31959358 - (Jobst-Schwan et al 2020) - 2 families (Indian, Turkish) with different homozygous variants in WDR72 identified by WES. All 3 affected individuals had Distal renal tubular acidosis. 1 individual is reported to have nephrocalcinosis. PMID: 33033857 - Khandelwal et al 2021 - 4 patients, from three unrelated consanguineous families, with RTA and amelogenesis imperfecta. Genome analysis of 3 of the patients identified 3 different homozygous nonsense variants in WDR72. Ultrasound showed bilateral grade I medullary nephrocalcinosis in the 3 patients. Created: 1 Mar 2023, 9:46 p.m. | Last Modified: 1 Mar 2023, 9:46 p.m. Panel Version: 3.4 Comment on list classification: Rating this gene as amber as 2 reported families to date. Created: 12 Feb 2019, 10:38 p.m. No association with a renal phenotype in OMIM (only with Amelogenesis imperfecta) or Gene2Phenotype. PMID: 30028003 (Rungroj et al 2018) report 2 families, of Thai and Indian ethnicities, with compound heterozygous and homozygous nonsense WDR72 variations respectively. Both were affected by hereditary distal renal tubular acidosis (dRTA). 3 different variants were found in WDR72; c.1777A>G:p.R593G and c.2522T>A:p.L841Q (predicted as disease causing or damaging, found as compound heterzygotes in family 1) and c.2686C>T:p.R896X. (protein truncating, homozygous in family 2). The truncating variant has been previously reported in a Pakistani family affected by hypomaturation AI, however no other clinical phenotypes in the patients were reported (PMID: 21196691). Patients in family 1 presented with proximal muscle weakness and/or growth retardation at ages under 7 years. One member of family 1 also had nephrolithiasis and localized enamel hypoplasia. Family 2 has consanguineous parents with one affected child which presented with hypoplastic amelogenesis imperfect in addition to dRTA. She also showed nephrocalcinosis. Created: 12 Feb 2019, 10:36 p.m. | Last Modified: 1 Mar 2023, 7:39 p.m. Panel Version: 3.4 Sources: Expert Review |
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