Hypogonadotropic hypogonadism idiopathic

Gene: DUSP6

Amber List (moderate evidence)

DUSP6 (dual specificity phosphatase 6)
EnsemblGeneIds (GRCh38): ENSG00000139318
EnsemblGeneIds (GRCh37): ENSG00000139318
OMIM: 602748, Gene2Phenotype
DUSP6 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype.

PMID: 23643382 - 5 cases with variants in DUSP6 (3 of these cases have variants in other genes FGFR1 and SPRY4).

PMID: 32389901 - 6 cases with variants in DUSP6 (1 case also has variants in CCDC141).

Based on the available evidence this gene has been given an Amber rating and will be reviewed by the GMS specialist group.
Created: 1 Apr 2021, 1:25 p.m. | Last Modified: 1 Apr 2021, 1:25 p.m.
Panel Version: 1.42

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 23643382 - 5 individuals with congenital hypogonadotrophic hypogonadism (CHH) (3 carry additional variants in FGFR1, SPRY4) PMID: 32389901 - 6 individuals with isolated HH, 3 also had cryptorchidism.
Sources: Expert list
Created: 15 Jul 2020, 7:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 19 with or without anosmia, MIM# 615269

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269
Tags
Q2_21_expert_review
OMIM
602748
Clinvar variants
Variants in DUSP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dusp6 has been classified as Amber List (Moderate Evidence).

1 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: DUSP6.

29 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DUSP6 were changed from Hypogonadotropic hypogonadism 19 with or without anosmia, MIM# 615269 to Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269

15 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DUSP6 was added gene: DUSP6 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DUSP6 were set to 23643382; 32389901 Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia, MIM# 615269 Review for gene: DUSP6 was set to GREEN gene: DUSP6 was marked as current diagnostic