Structural eye disease
Gene: PAX2
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
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
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
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
Publications for gene: PAX2 were set to 8589702
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