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| Hypogonadotropic hypogonadism (GMS) v2.5 | SPRY4 |
Catherine Snow Tag Q3_22_rating was removed from gene: SPRY4. Tag Q3_22_expert_review was removed from gene: SPRY4. |
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| Hypogonadotropic hypogonadism (GMS) v2.5 | SPRY4 | Catherine Snow commented on gene: SPRY4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | SPRY4 | Eleanor Williams commented on gene: SPRY4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | SPRY4 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: SPRY4. Tag Q3_22_rating tag was added to gene: SPRY4. Tag Q3_22_expert_review tag was added to gene: SPRY4. |
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| Hypogonadotropic hypogonadism (GMS) v1.48 | SPRY4 | Ivone Leong Entity copied from Hypogonadotropic hypogonadism v1.33 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.48 | SPRY4 |
Ivone Leong gene: SPRY4 was added gene: SPRY4 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Expert list,Literature monogenic-polygenic, Q2_21_expert_review tags were added to gene: SPRY4. Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRY4 were set to 23643382; 32389901 Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266 Penetrance for gene: SPRY4 were set to Complete |
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| Hypogonadotropic hypogonadism (GMS) v1.42 | DUSP6 |
Ivone Leong Added comment: 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. |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | DUSP6 |
Zornitza Stark 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 Added comment: 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 |
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