Arthrogryposis
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No association with arthrogryposisCreated: 22 Dec 2016, 3:15 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Short QT syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Fetal anomalies
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC22A5 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLC22A5 was added to Arthrogryposispanel. Sources: Expert list