Proteinuria
Gene: TPRKB

TPRKB (TP53RK binding protein)
EnsemblGeneIds (GRCh38): ENSG00000144034
EnsemblGeneIds (GRCh37): ENSG00000144034
OMIM: 608680, Gene2Phenotype
TPRKB is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.
Created: 4 Sep 2020, 2:22 a.m. | Last Modified: 4 Sep 2020, 2:22 a.m.

Panel Version: 0.4211

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 5, MIM# 617731

Publications

Created: 4 Sep 2020, 2:22 a.m.
Last Modified: 4 Sep 2020, 2:22 a.m.
Panel version: Imported from Mendeliome panel version 0.4211

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

2 unrelated patients with Galloway-Mowat syndrome and nephrotic syndrome with proteinuria, and homozygous missense mutations in the TPRKB gene, with functional evidence. 3rd family reported with 3 affected sibs and novel homozygous TP53RK mutation, but no functional evidence.
Created: 9 Jan 2020, 3:59 a.m. | Last Modified: 9 Jan 2020, 3:59 a.m.

Panel Version: 0.85

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 5, OMIM #617731

Publications

PubMed: 28805828, 30053862

Created: 9 Jan 2020, 3:59 a.m.
Last Modified: 9 Jan 2020, 3:59 a.m.
Panel version: 0.85

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Galloway-Mowat syndrome 5, OMIM #617731

OMIM

608680

Clinvar variants

Variants in TPRKB

Penetrance

None

Publications

Panels with this gene