Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Deafness_IsolatedAndComplex
Gene: PAX2

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Mild sensorineural hearing loss 3 individuals 16971658
high frequency SNHL 1 individual 8588587 son normal hearing ?variable penetrance
Although hearing loss is speculated to be part of this syndrome case reports do not provide compelling evidence.
Created: 28 Jan 2020, 11:04 p.m. | Last Modified: 28 Jan 2020, 11:04 p.m.

Panel Version: 0.253

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome

Publications

Created: 28 Jan 2020, 11:04 p.m.
Last Modified: 28 Jan 2020, 11:04 p.m.
Panel version: 0.253

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Papillorenal syndrome, MIM# 120330

OMIM

Clinvar variants

Variants in PAX2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax2 has been classified as Amber List (Moderate Evidence).

29 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330

29 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX2 were set to

29 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX2 was added gene: PAX2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: PAX2 was set to Unknown