Anophthalmia or microphthalmia
Gene: PAX2
PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green based on expert review.Created: 15 Feb 2019, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- 120330
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Retinal disorders
- 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
- CAKUT
History Filter Activity
15 Feb 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pax2 has been classified as Green List (High Evidence).
5 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Richard Scott (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Anophthalmia or microphthalmia. Sources: Expert list Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX2 were set to 22213154; 10533062 Phenotypes for gene: PAX2 were set to 120330 Penetrance for gene: PAX2 were set to Incomplete Review for gene: PAX2 was set to GREEN gene: PAX2 was marked as current diagnostic