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| Hypogonadotropic hypogonadism v1.40 | NSMF | Arina Puzriakova changed review comment from: Comment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this only partially explains the phenotype in some cases due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1.; to: Comment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this only partially explains the phenotype in some cases due to oligogenic variants in other genes such as FGFR1 and HS6ST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.40 | NSMF | Arina Puzriakova changed review comment from: Comment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this is only partially explains the phenotype due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1.; to: Comment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this only partially explains the phenotype in some cases due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.37 | NSMF | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this is only partially explains the phenotype due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v1.31 | SPRY4 |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. PMID:23643382 - 14 unrelated cases had variants in SPRY4, 3 cases had variants in other genes (DUSP6 and FGFR1). PMID: 32389901 - 1 cases had variants in SPRY4 and PLXNA1. Based on the available evidence, this variants in this gene may contribute to disease. Therefore this gene has been promoted from Red to Amber. |
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| Hypogonadotropic hypogonadism | FGFR1 | Ellen McDonagh commented on FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||