Limb disorders
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
Ana Beleza: Tier 2
Mode of inheritance for gene SF3B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Illumina TruGenome Clinical Sequencing Services was added to SF3B4. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to SF3B4. Panel: Limb disorders Expert list was added to SF3B4. Panel: Limb disorders Expert Review Green was added to SF3B4. Panel: Limb disorders Model of inheritance for gene SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to SF3B4. Panel: Limb disorders
SF3B4 was added to Limb disorders panel. Sources: Viapath
SF3B4 was created by Ellen McDonagh