Hypogonadotropic hypogonadism
Gene: DUSP6
Not currently sufficient evidence for diagnostic reporting.Created: 7 Jun 2016, 12:37 p.m.
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Three reviewers recommend Green. Two variants reported in monogenic state, one of these found as digenic with a SPRY4 variant and two further DUSP6 variants reported as digenic with a FGFR1 and a SPRY4 variants. No functional data presented.Created: 12 Oct 2016, 1:29 p.m.
Comment on list classification: PMID 23643382: Reports four DUSP6 variants; monogenic: c.229T>A p.Phe77Ile and c.566A>G p.Asn189Ser; digenic:DUSP6 c.545C>T p.Ser182Phe with FGFR1 c.2075A>G p.Glu692Gly, DUSP6 c.566A>G p.Asn189Ser with SPRY4 c.722C>A p.Ser241Tyr and DUSP6 c.1037C>T p.Thr346Met with SPRY4 c.722C>A p.Ser241Tyr.Created: 12 Oct 2016, 1:29 p.m.
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for DUSP6 were set to 23643382
Phenotypes for gene DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia, 615269
DUSP6 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
DUSP6 was created by sleigh
DUSP6 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM