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  3. SLC22A5
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Fatty Acid Oxidation Defects

Gene: SLC22A5

Green List (high evidence)
SLC22A5 (solute carrier family 22 member 5)
EnsemblGeneIds (GRCh38): ENSG00000197375
EnsemblGeneIds (GRCh37): ENSG00000197375
OMIM: 603377, Gene2Phenotype
SLC22A5 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Definitive by ClinGen.
Created: 29 Jul 2020, 11:46 a.m. | Last Modified: 29 Jul 2020, 11:46 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine deficiency, systemic primary, MIM# 212140

Created: 29 Jul 2020, 11:46 a.m.
Last Modified: 29 Jul 2020, 11:46 a.m.
Panel version: 0.28

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: SLC22A5.

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc22a5 has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140

29 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC22A5 was added gene: SLC22A5 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC22A5 was set to Unknown