Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to green as there is evidence for association with cranofacial and limb phenotype.
Eleanor Williams Phenotypes for gene: PAX3 were changed from Craniofacial-Deafness-Hand Syndrome to Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820
Eleanor Williams Mode of inheritance for gene: PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eleanor Williams edited their review of gene: PAX3: Added comment: Comment from Tracy Lester - PAX3 should be made green on the skeletal dysplasia panel in the absence of any other relevant panel in the test directory. It is currently red on the Craniosynostosis panel.; Changed rating: GREEN