Proteinuria

Gene: PAX2

Green List (high evidence)

Well established for Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352

Well established for Glomerulosclerosis, focal segmental, 7, MIM#616002

PMID: 31060108 (2019) - 10 children with PAX2 mutations. New phenotypes including congenital ventricular septal defect (1 patient), skeletal deformity (fourth metatarsal microsomia - 1 patient), ovarian teratoma (1 patient), growth retardation (1 patient), gout (1 patient), and microcephaly (1 patient) were also found.

PMID: 32203253 (2018) - 19 different pathogenic variants in 38 patients from 30 families. Non-renal and non-ophthalmological manifestations included developmental disorder, electrolyte abnormality, and gonadal abnormalities

Created: 5 Apr 2022, 7:40 a.m. | Last Modified: 5 Apr 2022, 7:40 a.m.

Panel Version: 0.12573

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352; Glomerulosclerosis, focal segmental, 7 - MIM#616002

Publications

• 21654726
• 24676634
• 31060108
• 32203253

Green List (high evidence)

Seven unrelated families with FSGS and mono allelic variants in this gene reported.

Created: 20 Dec 2019, 3:25 a.m. | Last Modified: 20 Dec 2019, 3:25 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glomerulosclerosis, focal segmental, 7, MIM#616002

Publications

• 24676634