Radial dysplasia
Gene: SF3B4Comment when marking as ready: Limb defects typically involve the radial elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. In association with mandibulo-facial dysostosis. Appropriate for inclusion.Created: 11 May 2017, 1:57 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 29 Jul 2016, 2:35 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acrofacial dysostosis 1, Nager type 154400
Variants in this GENE are reported as part of current diagnostic practice
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400
This gene has been classified as Green List (High Evidence).
Phenotypes for SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400;
This gene has been classified as Green List (High Evidence).
Phenotypes for gene SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400; Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis
SF3B4 was added to Radial dysplasiapanel. Source: Expert list
SF3B4 was created by rfoulger
SF3B4 was added to Radial dysplasiapanel. Sources: Other