Sporadic aniridia
Gene: PAX6
Strong disease association with a variety of ocular disorders, especially aniridia. Diagnostic testing of PAX6 at the Wessex Regional Genetics Laboratory has identified a pathogenic variant in 140 of 500 index cases; the most common referral reason being aniridia.Created: 22 Mar 2019, 2:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia
Variants in this GENE are reported as part of current diagnostic practice
Wessex panelCreated: 20 Mar 2019, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia 106210
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Loss of function or missense variants reported in this gene as causing Aniridia in more than 3 families (see publications).Created: 3 Jan 2019, 12:47 p.m.
Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642; 32467297
Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642
Phenotypes for gene: PAX6 were changed from Aniridia 106210 to Aniridia, OMIM:106210
Source Wessex and West Midlands GLH was added to PAX6. Added phenotypes Aniridia 106210 for gene: PAX6
Ellen McDonagh: Comment on list classification
Gene: pax6 has been classified as Green List (High Evidence).
Source Radboud University Medical Center, Nijmegen was added to PAX6. Source Illumina TruGenome Clinical Sequencing Services was added to PAX6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: pax6 has been classified as Green List (High Evidence).
Publications for gene: PAX6 were set to 1302030; 8111379; 7951315
Publications for gene: PAX6 were set to
gene: PAX6 was added gene: PAX6 was added to Aniridia. Sources: UKGTN Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX6 were set to Aniridia 106210