Monogenic hearing loss
Gene: PAX2

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM and G2P. Not on the imprinted gene list.
Created: 1 Mar 2016, 12:58 p.m.

Comment on list classification: Confirmed internally that this should be promoted from red to green - 10% of cases have high freq hearing loss.
Created: 1 Mar 2016, 12:56 p.m.

Comment on list classification: It is a confirmed DD gene for renal-coloboma syndrome (phenotypes of which can include sensorineural hearing impairment).
Created: 23 Feb 2016, 1:34 p.m.

Created: 23 Feb 2016, 1:34 p.m.

Panel version: 0.381

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#120330:Papillorenal syndrome[Sensorineural hearing loss (rare); Retinal colobomaOptic nerve colobomaOptic disc dysplasiaExcavation of optic disc (pits)Optic disc hyperplasiaMorning glory optic discHypoplastic optic discOrbital cystsMicrophthalmiaGliosis of optic nerveAbsent optic nerve headAbnormal retinal pigment epitheliumAbnormal retinal vesselsChorioretinal degenerationRetinal detachment (rare)Retinal staphyloma (rare)Retinal edema (rare)Macular degeneration (rare)Papillomacular detachment (rare)Hyperpigmentation of the macula (rare)Cystic degeneration of the macula (rare)Posterior lens luxation (rare)Lens opacity (rare); Congenital anomalies of the kidney and urinary tract (CAKUT)Renal hypoplasiaEnd stage renal failureRenal cystsMulticystic dysplastic kidneysMedullary sponge kidney (rare)Horseshoe kidney (rare)Nephrolithiasis (rare)Renal malrotation (rare)Anomalous renal pelvis (rare); Vesicoureteral refluxPyeloureteral duplication (rare); Joint laxity; Hyperextensible skinSoft skin; Normal intelligenceMental retardation (one patient)Seizure disorderArnold Chiari type I malformation; Proteinuria]; #616002:Glomerulosclerosis, focal segmental, 7[Focal segmental glomerulosclerosisNephrotic syndromeEnd-stage renal disease (in some patients)Biopsy shows effacement of foot processesSmall kidneys (in some patients); Proteinuria]

Publications

Created: 7 Feb 2016, 8:52 a.m.

Panel version: 0.105

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert

Phenotypes

RENAL-COLOBOMA SYNDROME
#120330:Papillorenal syndrome
#616002:Glomerulosclerosis, focal segmental, 7

OMIM

167409

Clinvar variants

Variants in PAX2

Penetrance

Complete

Publications

Panels with this gene