Intestinal failure or congenital diarrhoea

Gene: SLC9A3

Green List (high evidence)

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

3 reviews

Eleanor Williams (Genomics England Curator)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48

Miranda Durkie (Genetics)

Green List (high evidence)

PMID: 26358773 - Recessive loss-of-function mutations found in 8/16 families with non-syndromic CSD (where GUCY2C mutations were excluded)
Created: 25 Jan 2019, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital sodium diarrhea

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SLC9A3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 10:52 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 8, secretory sodium, congenital, OMM:616868
OMIM
182307
Clinvar variants
Variants in SLC9A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC9A3 were changed from Congenital sodium diarrhea to Diarrhea 8, secretory sodium, congenital, OMM:616868

5 Feb 2019, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SLC9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Feb 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC9A3 were changed from to Congenital sodium diarrhea

5 Feb 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SLC9A3 were set to

8 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SLC9A3. Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SLC9A3 was added gene: SLC9A3 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: SLC9A3 was set to