Hypogonadotropic hypogonadism
Gene: SLC29A3Comment 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 hypogonadismCreated: 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 phenotypeCreated: 1 Jun 2016, 10:05 a.m.
Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
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.
SLC29A3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Emory Genetics Laboratory
This gene has been classified as Green List (High Evidence).
Publications for SLC29A3 were set to 26074390; 20619369; 18940313; 16650224; 22989030
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782
This gene has been classified as Red List (Low Evidence).
SLC29A3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
SLC29A3 was created by sleigh
SLC29A3 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Illumina TruGenome Clinical Sequencing Services