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  2. Deafness and congenital structural abnormalities
  3. SF3B4
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Deafness and congenital structural abnormalities

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

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:45 p.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:45 p.m.
Created: 12 Sep 2016, 2:45 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.62

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Five variants reported.
Created: 8 Sep 2016, 9:41 a.m.
Comment on list classification: Expert review
Created: 8 Sep 2016, 9:39 a.m.
Created: 8 Sep 2016, 9:39 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.22

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrofacial dysostosis 1, Nager type

Publications

Created: 18 Aug 2016, 10:10 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.2

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#154400:Acrofacial dysostosis 1, Nager type [Short stature; Microcephaly; Micrognathia; Midface retrusion; Retrognathia; Conductive deafness; Low-set ears; Posteriorly rotated ears; Preauricular tags; External auditory canal atresia; Downslanting palpebral fissures; Partial-total absence of lower eyelashes; Lower lid coloboma; High nasal bridge; Cleft palate; Cleft lip; Macrostomia; Trismus; Velopharyngeal insufficiency; Tetralogy of Fallot (in some patients); Ventricular septal defect (in some patients); Patent ductus arteriosus (in some patients); Laryngeal hypoplasia; Hypoplasia of the epiglottis; Hypoplastic first rib; Gastroschisis; Hirschsprung disease; Bicornuate uterus; Unilateral renal agenesis; Duplicated calyx; Hypoplastic zygomatic arch; Hypoplastic mandible; Scoliosis; Cervical vertebral abnormalities; Hip dislocation; Radioulnar synostosis; Limitation of elbow extension; Short forearms; Radial aplasia; Radial hypoplasia; Thumb aplasia/hypoplasia; Syndactyly; Clinodactyly; Triphalangeal thumbs; Missing toes; Hypoplastic toes; Toe syndactyly; Overlapping toes; Hallux valgus; Broad hallux; Clubfeet; Urticaria pigmentosa; Partial to total absence of eyelashes; Normal intelligence; Hydrocephalus; Aqueductal stenosis; Polymicrogyria; Speech delay; Premature birth]

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

MIM 154400
Created: 3 Feb 2016, 9:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAUSES NAGER ACROFACIAL DYSOSTOSIS; SYNDROMIC FEATURES

Publications

Created: 3 Feb 2016, 9:30 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 154400
  • Acrofacial dysostosis 1,Nager type,154400
  • NAGER ACROFACIAL DYSOSTOSIS
  • SYNDROMIC FEATURES
OMIM
605593
Clinvar variants
Variants in SF3B4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SF3B4 were set to 22541558; 23568615; 7958871;24003905

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SF3B4 was created by sleigh