Radial dysplasia
Gene: SF3B4EnsemblGeneIds (GRCh38): ENSG00000143368
EnsemblGeneIds (GRCh37): ENSG00000143368
OMIM: 605593, Gene2Phenotype
SF3B4 is in 8 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment 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.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 29 Jul 2016, 2:35 p.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- Acrofacial dysostosis 1, Nager type, 154400
- OMIM
- 605593
- Clinvar variants
- Variants in SF3B4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400;
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)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
Added New Source
Rebecca Foulger (Genomics England curator)SF3B4 was added to Radial dysplasiapanel. Source: Expert list
Created
Rebecca Foulger (Genomics England curator)SF3B4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SF3B4 was added to Radial dysplasiapanel. Sources: Other