Syndromic Retinopathy

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)

Broad range of retinal findings described: wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, designated optic nerve 'coloboma' or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia.

Created: 13 Oct 2020, 6:34 a.m. | Last Modified: 13 Oct 2020, 6:34 a.m.

Panel Version: 0.126

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome, MIM# 120330