Proteinuric renal disease

Gene: TP53RK

Green List (high evidence)

Comment on list classification: Changing rating from red to green as there are 3 unrelated families with variants in this gene with Galloway-Mowatt syndrome.

Created: 26 Mar 2019, 11:36 a.m.

TP53RK is associated with Galloway-Mowat syndrome 4 (617730) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and TP53RK should be included on the Proteinuric renal disease panel.

PMID: 28805828 - Braun et al 2017 - 4 patients from 3 unrelated families with Galloway-Mowat syndrome-4. Compound heterozygous or homozygous variants (4 different variants) found in the TP53RK gene. Functional data suggests the variants impaired protein functionality.

Created: 26 Mar 2019, 11:35 a.m.

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: TP53RK; Suggested initial gene rating: green; Evidence for inclusion: PMID: 28805828; Other comments: Three unrelated families with rare TP53RK AR variants.

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 4 #617730

Publications

• PMID: 28805828