Pigmentary skin disordersGene: PAX3
Comment on mode of inheritance: OMIM Mode of inheritance matches that submitted by Thomas Cullup and Veronica Kinsler (both monoallelic and biallelic): MOI is monoallelic (AD) for Waardenburg syndrome, type 1, 193500. MOI is both monoallelic and biallelic (AD, AR) for Waardenburg syndrome, type 3, 148820.
Created: 7 Feb 2019, 2:20 p.m.
Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. PAX3 is Green on the 'Hearing loss' panel with Waardenburg phenotypes, and has a confirmed rating on DD-G2P for WAARDENBURG SYNDROME, TYPE 1.
Created: 7 Feb 2019, 2:18 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PAX3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Added phenotypes WAARDENBURG SYNDROME, TYPE 1; WS3; WS1, WAARDENBURG SYNDROME, TYPE 3 for gene: PAX3 Publications for gene PAX3 were changed from to 8533800; 8447316
Source London North GLH was added to PAX3.
Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: PAX3 was added gene: PAX3 was added to Pigmentary skin disorders. Sources: Expert Review Green,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