1. Panels
  2. Hydrops fetalis
  3. SLC22A5
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrops fetalis

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)

Single case report identified.
Sources: Expert list
Created: 13 Aug 2020, 11:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine deficiency, systemic primary, MIM# 212140

Publications

Created: 13 Aug 2020, 11:51 p.m.

Panel version: 0.155

History Filter Activity

13 Aug 2020, 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).

13 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC22A5 was added gene: SLC22A5 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 16010481 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140 Review for gene: SLC22A5 was set to RED