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  2. Radial Ray Abnormalities
  3. SF3B4
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Radial Ray 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 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Created: 23 Jul 2020, 1:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrofacial dysostosis 1, Nager type, MIM# 154400

Publications

Created: 23 Jul 2020, 1:04 a.m.

Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acrofacial dysostosis 1, Nager type, MIM# 154400
OMIM
605593
Clinvar variants
Variants in SF3B4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sf3b4 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sf3b4 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SF3B4 was added gene: SF3B4 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B4 were set to 22541558 Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type, MIM# 154400 Review for gene: SF3B4 was set to GREEN