Gastrointestinal epithelial barrier disorders
Gene: SLC22A5
SLC22A5 (solute carrier family 22 member 5)
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 15 panels
0 reviews
Details
- Sources
-
- Other
- Phenotypes
-
- Crohn disease
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Short QT syndrome
- Mitochondrial disorders
- DDG2P
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
History Filter Activity
25 Jul 2018, Gel status: 1
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)SLC22A5 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Other
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)SLC22A5 was created by Olivia Niblock