Renal Tubulopathies and related disorders
Gene: WDR72

WDR72 (WD repeat domain 72)
EnsemblGeneIds (GRCh38): ENSG00000166415
EnsemblGeneIds (GRCh37): ENSG00000166415
OMIM: 613214, Gene2Phenotype
WDR72 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. A number of families reported with RTA in addition to the amelogenesis imperfecta, proximal RTA may co-exist.
Sources: Expert Review
Created: 16 Sep 2021, 9:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA

Publications

Created: 16 Sep 2021, 9:12 p.m.

Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.43

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review
Expert Review Green
Expert Review

Phenotypes

Amelogenesis imperfecta, type IIA3, MIM# 613211
Distal RTA

OMIM

613214

Clinvar variants

Variants in WDR72

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR72 was added gene: WDR72 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to 30028803; 30779877 Phenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA

Renal Tubulopathies and related disorders Gene: WDR72