Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | FGF17 |
Catherine Snow Tag Q3_22_rating was removed from gene: FGF17. Tag Q3_22_expert_review was removed from gene: FGF17. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | FGF17 | Catherine Snow commented on gene: FGF17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | FGF17 | Eleanor Williams commented on gene: FGF17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | FGF17 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: FGF17. Tag Q3_22_rating tag was added to gene: FGF17. Tag Q3_22_expert_review tag was added to gene: FGF17. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.41 | FGF17 | Ivone Leong Classified gene: FGF17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.41 | FGF17 |
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 identfied 3 cases with variants in the FGF17 gene. However, 1 of these cases have variants in other genes as well (FLRT3, HS6ST1 and FGFR1). Based on the available evidence variants in this gene contribute to disease with variable penetrance. This gene has been given an Amber rating until further evidence is available. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.41 | FGF17 | Ivone Leong Gene: fgf17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | FGF17 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGF17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.19 | FGF17 | Ivone Leong Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | FGF17 |
Zornitza Stark gene: FGF17 was added gene: FGF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF17 were set to 23643382; 31748124 Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 Penetrance for gene: FGF17 were set to Incomplete Review for gene: FGF17 was set to AMBER Added comment: PMID: 23643382 - 3 individuals with Kallman syndrome or idiopathic hypogonadotropic hypogonadism (IHH). Functional studies on missense showed reduced protein expression and destabilization, one individual had additional variants in other genes. PMID: 31748124 - 3 individuals with IHH, where two individuals inherited variants from unaffected parents. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||