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  3. SLC9A3
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Gastrointestinal epithelial barrier disorders

Gene: SLC9A3

Red List (low evidence)
SLC9A3 (solute carrier family 9 member A3)
EnsemblGeneIds (GRCh38): ENSG00000066230
EnsemblGeneIds (GRCh37): ENSG00000066230
OMIM: 182307, Gene2Phenotype
SLC9A3 is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, 616868
OMIM
182307
Clinvar variants
Variants in SLC9A3
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

Expert list was added to SLC9A3. Panel: Gastrointestinal epithelial barrier disorders

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SLC9A3 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

SLC9A3 was created by Olivia Niblock