Hypogonadotropic hypogonadism

Gene: SLC29A3

Green List (high evidence)

SLC29A3 (solute carrier family 29 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198246
EnsemblGeneIds (GRCh37): ENSG00000198246
OMIM: 612373, Gene2Phenotype
SLC29A3 is in 12 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.

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, 602782
OMIM
612373
Clinvar variants
Variants in SLC29A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Upload gene information

Sarah Leigh (Genomics England Curator)

SLC29A3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Emory Genetics Laboratory

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC29A3 were set to 26074390; 20619369; 18940313; 16650224; 22989030

1 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SLC29A3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC29A3 was created by sleigh

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC29A3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Illumina TruGenome Clinical Sequencing Services