Structural eye disease
Gene: PAX2EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Many cases published with renal coloboma syndrome. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome 120330
Publications
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Many cases published with renal coloboma syndrome. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome 120330
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Clinical features include coloboma and microphthalmia.Created: 5 Feb 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Papillorenal syndrome 120330
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Cystic kidney disease
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Fetal anomalies
- Proteinuric renal disease
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
History Filter Activity
Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PAX2. Mode of pathogenicity for gene PAX2 was changed from to Other - please provide details in the comments Added phenotypes Papillorenal syndrome 120330 for gene: PAX2 Publications for gene PAX2 were changed from 8589702; 22213154; 10533062 to 10533062; 8589702; 22213154
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PAX2 were set to 8589702
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX2 were set to 8589702 Phenotypes for gene: PAX2 were set to Papillorenal syndrome 120330