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  3. WDR72
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BabyScreen+ newborn screening

Gene: WDR72

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The association with amelogenesis imperfecta does not meet severity criteria.

However, a number of families reported with RTA in addition to the amelogenesis imperfecta, proximal RTA may co-exist. This is amenable to treatment as detailed below.
Created: 9 Mar 2023, 7:02 a.m. | Last Modified: 9 Mar 2023, 7:02 a.m.
Panel Version: 0.1956

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA MONDO:0015827

Publications

Created: 9 Mar 2023, 7:02 a.m.
Last Modified: 9 Mar 2023, 7:02 a.m.
Panel version: 0.1956

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Amelogenesis imperecta - thickened and disoloured dental enamal with RTA
Reduced penetrance or variable expression? Some patients only have the tooth phenotype...
Presents with polyuria and growth restriction
Treat with oral alkali replacement therapy, potassium chloride
Sources: Expert list
Created: 9 Mar 2023, 3:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis

Publications

Created: 9 Mar 2023, 3:07 a.m.

Panel version: 0.1952

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211
  • Distal RTA MONDO:0015827
Tags
treatable renal
OMIM
613214
Clinvar variants
Variants in WDR72
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr72 has been classified as Green List (High Evidence).

9 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR72 were changed from Distal renal tubular acidosis to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA MONDO:0015827

9 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr72 has been classified as Green List (High Evidence).

9 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: WDR72. Tag renal tag was added to gene: WDR72.

9 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: WDR72 was added gene: WDR72 was added to Baby Screen+ newborn screening. 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, PMID: 30779877, PMID:36836560, PMID: 33033857 Phenotypes for gene: WDR72 were set to Distal renal tubular acidosis Review for gene: WDR72 was set to GREEN