Nephrocalcinosis or nephrolithiasis
Gene: WDR72EnsemblGeneIds (GRCh38): ENSG00000166415
EnsemblGeneIds (GRCh37): ENSG00000166415
OMIM: 613214, Gene2Phenotype
WDR72 is in 4 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 11:32 a.m. | Last Modified: 6 Dec 2024, 11:32 a.m.
Panel Version: 4.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams (Genomics England Curator)
Comment 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- distal renal tubular acidosis, MONDO:0015827
- Amelogenesis imperfecta, type IIA3, OMIM:613211
- amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
- OMIM
- 613214
- Clinvar variants
- Variants in WDR72
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: WDR72. Tag Q1_23_NHS_review was removed from gene: WDR72.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to WDR72. Source Expert Review Green was added to WDR72. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: WDR72. Tag Q1_23_NHS_review tag was added to gene: WDR72.
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: WDR72 were set to PMID: 30028003; 30779877; 31959358; 33033857
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: wdr72 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Detlef Bockenhauer (GOSH-UCL)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