PHACE(S) syndrome
Gene: AKR1B1
AKR1B1 (aldo-keto reductase family 1 member B)
EnsemblGeneIds (GRCh38): ENSG00000085662
EnsemblGeneIds (GRCh37): ENSG00000085662
OMIM: 103880, Gene2Phenotype
AKR1B1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000085662
EnsemblGeneIds (GRCh37): ENSG00000085662
OMIM: 103880, Gene2Phenotype
AKR1B1 is in 1 panel
1 review
Rebecca Foulger (Genomics England curator)
Aded the 'deletions' tag based on the partial deletion of AKR1B1 reported in PMID:22544659.Created: 10 Apr 2017, 1:57 p.m.
PMID:22544659 (Mitchell et al., 2012) report an individual with PHACE syndrome with a 26.5kb deletion with partial deletion of AKR1B1. 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, 1:57 p.m.
Details
- Sources
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- Literature
- Phenotypes
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- PHACE syndrome
- Tags
- OMIM
- 103880
- Clinvar variants
- Variants in AKR1B1
- 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
Added New Source
Rebecca Foulger (Genomics England curator)AKR1B1 was added to PHACE(S) syndromepanel. Sources: Literature
10 Apr 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)AKR1B1 was created by rfoulger