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  3. PAX2
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Fetal anomalies

Gene: PAX2

Green List (high evidence)
PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 8 panels

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

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 (could not access publication).
Created: 22 Nov 2021, 5:04 a.m. | Last Modified: 22 Nov 2021, 5:04 a.m.
Panel Version: 0.612

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome; Renal coloboma syndrome; ventricular septal defect; skeletal deformity; ovarian teratoma; growth retardation; gout; microcephaly; developmental disorder; gonadal abnormalities

Publications

Created: 22 Nov 2021, 5:04 a.m.
Last Modified: 22 Nov 2021, 5:04 a.m.
Panel version: 0.612

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia and CAKUT are reported features.
Created: 22 Nov 2021, 6:12 a.m. | Last Modified: 22 Nov 2021, 6:12 a.m.
Panel Version: 0.657

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352

Created: 8 Dec 2019, 7:02 a.m.
Last Modified: 8 Dec 2019, 7:02 a.m.
Panel version: 0.657

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Papillorenal syndrome, MIM# 120330
  • Renal coloboma syndrome, MONDO:0007352
OMIM
167409
Clinvar variants
Variants in PAX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax2 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX2 were changed from RENAL-COLOBOMA SYNDROME to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352

22 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX2 were set to

22 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX2 was added gene: PAX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME