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Hearing loss

Gene: PAX2

Green List (high evidence)

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 23 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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.

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

History Filter Activity

1 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PAX2 were set to RENAL-COLOBOMA SYNDROME; #120330:Papillorenal syndrome; #616002:Glomerulosclerosis, focal segmental, 7

1 Mar 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PAX2 were set to PMID: 10533062; 10587573; 10869107; 11093271; 11168927; 11241473; 11461952; 11730657; 12141441; 12697057; 12915483; 15623552; 15652857; 16355216; 16971658; 19005469; 1977574; 20358591; 21108633; 22213154; 24676634; 2644560; 3377002; 7720589; 7795640; 7819127; 7835879; 7981748; 8431641; 8588587; 8589702; 8661132; 8760285; 8943028; 9106533; 9132492; 9760197; 9916932

1 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PAX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert