Autoinflammatory disorders
Gene: SLC29A3

SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 13 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.

Panel Version: 0.36

Created: 16 Feb 2022, 11:44 a.m.
Last Modified: 16 Feb 2022, 11:44 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782

OMIM

612373

Clinvar variants

Variants in SLC29A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SLC29A3.

11 Jan 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SLC29A3 was added gene: SLC29A3 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC29A3 were set to 22238637; 18940313; 20619369; 20140240; 19336477; 16650224; 23530176; 22653152; 16118898; 22875837; 21888995; 19175903; 21178579 Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782

Autoinflammatory disorders Gene: SLC29A3