Proteinuric renal disease

Gene: LAGE3

Green List (high evidence)

Comment on list classification: Changing this gene from red to green as 3 unrelated cases of variants in this gene in patients with Galloway-Mowat syndrome have been reported.

Created: 26 Mar 2019, 10:52 a.m.

LAGE3 is associated with Galloway-Mowat syndrome 2, X-linked (#301006) 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 LAGE3 should be included on the Proteinuric renal disease panel.

PMID: 28805828 - Braun et al 2017 - hemizygous mutations in the LAGE3 gene were identified ion 4 male patients from 3 unrelated families with X-linked Galloway-Mowat syndrome-2. Three different variants (2 missense, one splice site). Patients with different ethnic backgrounds.

Created: 26 Mar 2019, 10:51 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: LAGE3; Suggested initial gene rating: green; Evidence for inclusion: PMID: 28805828; Other comments: Three unrelated families with rare LAGE3 variants and Galloway-Mowat syndrome

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

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Galloway-Mowat syndrome 2, X-linked #301006

Publications

• PMID: 28805828