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Intellectual disability syndromic and non-syndromic

Gene: SLC22A5

Red List (low 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)

Red List (low evidence)

Encephalopathy due to episodes of hypoglycaemia, ID is not part of the phenotype.
Created: 10 Dec 2019, 10:29 p.m. | Last Modified: 10 Dec 2019, 10:29 p.m.
Panel Version: 0.1221

Phenotypes
Carnitine deficiency, systemic primary, MIM#212140

History Filter Activity

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc22a5 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc22a5 has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC22A5 was set to Unknown