Radial dysplasia

Gene: SF3B4

Green List (high evidence)

SF3B4 (splicing factor 3b subunit 4)
EnsemblGeneIds (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 reported
Created: 29 Jul 2016, 2:35 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for SF3B4 were set to Acrofacial dysostosis 1, Nager type, 154400;

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 0

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

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SF3B4 was added to Radial dysplasiapanel. Source: Expert list

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SF3B4 was added to Radial dysplasiapanel. Sources: Other

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SF3B4 was created by rfoulger