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Limb disorders

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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Acrofacial dysostosis 1, Nager type, 154400
  • Acrofacial dysostosis 1, Nager type 154400
OMIM
605593
Clinvar variants
Variants in SF3B4
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to SF3B4. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SF3B4 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SF3B4 was created by Ellen McDonagh