Mitochondrial disease
Gene: SLC22A5EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels
2 reviews
Manny Jacobs (Victorian Clinical Genetics Services)
Well established gene-disease association, curated definitive by ClinGen Fatty Acid Oxidation Disorders Gene Curation Expert Panel (PMID: 31399326).Created: 8 May 2022, 11:25 p.m. | Last Modified: 8 May 2022, 11:25 p.m.
Panel Version: 0.13930
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Publications
Bryony Thompson (Royal Melbourne Hospital)
>3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria and is essential for normal gut function.
Sources: NHS GMS, LiteratureCreated: 20 Mar 2020, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary MIM#212140
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- NHS GMS
- Phenotypes
-
- Carnitine deficiency, systemic primary MIM#212140
- Tags
- OMIM
- 603377
- Clinvar variants
- Variants in SLC22A5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Fatty Acid Oxidation Defects
- Short QT syndrome
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: SLC22A5.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc22a5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc22a5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC22A5 was added gene: SLC22A5 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary MIM#212140 Review for gene: SLC22A5 was set to GREEN