Structural eye disease
Gene: PAX3
FC: the main eye anomalies are changes in pigmentation, rather than structural changes - DB: checked many papers on PAX3/Waardenburg but did not find any cases with structural eye anomaliesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 3; Waardenburg syndrome, type 1; 148820; 193500
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC: the main eye anomalies are changes in pigmentation, rather than structural changes - DB: checked many papers on PAX3/Waardenburg but did not find any cases with structural eye anomaliesCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 3; Waardenburg syndrome, type 1; 148820; 193500
Variants in this GENE are reported as part of current diagnostic practice
gene: PAX3 was added gene: PAX3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820