Nephrocalcinosis or nephrolithiasis
Gene: WDR72Comment on list classification: Promoting this gene to amber with a recommendation of green rating following GMS review. There are 5 cases with nephrocalcinosis reported and biallelic variants in this gene.Created: 1 Mar 2023, 8:13 p.m. | Last Modified: 1 Mar 2023, 8:13 p.m.
Panel Version: 3.5
Associated with Amelogenesis imperfecta, type IIA3 only in OMIM.
Numerous patients with biallelic variants in WDR72 reported with an Amelogenesis imperfecta (AI) and distal renal tubular acidosis (dRTA). 5 patients from different families also reported to show nephrocalcinosis.
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). One member of family 1 had nephrolithiasis and localized enamel hypoplasia. Family 2 has consanguineous parents with one affected child which presented with hypoplastic amelogenesis imperfecta and nephrocalcinosis in addition to dRTA.
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, 8:12 p.m. | Last Modified: 1 Mar 2023, 8:12 p.m.
Panel Version: 3.4
Tag Q1_23_promote_green tag was added to gene: WDR72. Tag Q1_23_NHS_review tag was added to gene: WDR72.
Phenotypes for gene: WDR72 were changed from distal renal tubular acidosis; amelogenesis imperfecta to distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Publications for gene: WDR72 were set to PMID: 30028003; 30779877; 31959358; 33033857
Gene: wdr72 has been classified as Amber List (Moderate Evidence).
gene: WDR72 was added gene: WDR72 was added to Nephrocalcinosis or nephrolithiasis. Sources: Expert list Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to PMID: 30028003; 30779877; 31959358; 33033857 Phenotypes for gene: WDR72 were set to distal renal tubular acidosis; amelogenesis imperfecta Penetrance for gene: WDR72 were set to Complete Review for gene: WDR72 was set to GREEN