Radial dysplasiaGene: PUF60
Comment when marking as ready: Marked as red on radial dysplasias as the reported limb features to date, do not fit with the scope of this panel. Reported features include syndactyly and clenched thumbs. Review by Richard Scott was imported with a batch from VACTERL-like panel which is a more appropriate fit for PUF60.
Created: 11 May 2017, 1:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Red List (Low Evidence).
Phenotypes for PUF60 were set to Verheij syndrome, 615583
PUF60 was added to Radial dysplasiapanel. Sources: Expert Review
PUF60 was created by richardhywel