PHACE(S) syndrome
Gene: SLC35B4
SLC35B4 (solute carrier family 35 member B4)
EnsemblGeneIds (GRCh38): ENSG00000205060
EnsemblGeneIds (GRCh37): ENSG00000205060
OMIM: 610923, Gene2Phenotype
SLC35B4 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000205060
EnsemblGeneIds (GRCh37): ENSG00000205060
OMIM: 610923, Gene2Phenotype
SLC35B4 is in 1 panel
1 review
Rebecca Foulger (Genomics England curator)
Aded the 'deletions' tag based on the complete deletion of SLC35B4 reported in PMID:22544659.
Created: 10 Apr 2017, 1:56 p.m.
PMID:22544659 (Mitchell et al., 2012) report an individual with PHACE syndrome with a complete deletion of SLC35B4. Added the 'deletion' tag based on this publication. SLC35B4 was sequenced for 33 individuals with PHACE syndrome; common polymorphsms with a possible haplotype but no disease causing mutation were identified. The authors conclude that the deletion of SLC35B4 and/or AKR1B1 are not likely the singular cause of PHACE syndrome, but this region may provide a genetic susceptibility.Created: 10 Apr 2017, 1:56 p.m.
Details
- Sources
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- Literature
- Phenotypes
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- PHACE syndrome
- Tags
- OMIM
- 610923
- Clinvar variants
- Variants in SLC35B4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
12 Apr 2017, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1: April 12th 2017. At the time of curation (April 2017), no genetic causes of PHACE(s) were reported, and therefore there are no green genes on the V1.0 panel. Based on clinical advice, VHL is not included on the panel.
10 Apr 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)SLC35B4 was created by rfoulger
10 Apr 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)SLC35B4 was added to PHACE(S) syndromepanel. Sources: Literature