Hypogonadotropic hypogonadism
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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, but not in G2P. Hypogonadotropic hypogonadism is a rare clinical feature in histiocytosis-lymphadenopathy plus syndrome (OMIM 602782), however, four different SLC29A3 variants have been reported in cases including hypogonadotropic hypogonadism
Created: 14 Oct 2016, 7:56 a.m.

Comment on list classification: Associated with Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782), hypogonadotropic hypogonadism is a rare clinical feature of this phenotype
Created: 1 Jun 2016, 10:05 a.m.

Created: 1 Jun 2016, 10:05 a.m.

Panel version: 0.71

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Emory Genetics Laboratory
Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782

OMIM

612373

Clinvar variants

Variants in SLC29A3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

14 Oct 2016, Gel status: 4