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Infertility and Recurrent Pregnancy Loss v0.136 | GNRHR | Zornitza Stark Marked gene: GNRHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.136 | GNRHR | Zornitza Stark Gene: gnrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.136 | GNRHR | Zornitza Stark Classified gene: GNRHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.136 | GNRHR | Zornitza Stark Gene: gnrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.103 | GNRHR |
Jasmine Chew changed review comment from: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not). Berkay et al. 2023 (PMID: 36385415)- Reported a case with recurrent pregnancy loss, recurrent implantation failure and primary infertility (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) Sources: Literature; to: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not). Berkay et al. 2023 (PMID: 36385415)- Reported a case with recurrent pregnancy loss, recurrent implantation failure and primary infertility (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.103 | GNRHR |
Jasmine Chew changed review comment from: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not). Berkay et al. 2023 (PMID: 36385415)- Reported a case with RPL, RIF, PI (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) Sources: Literature; to: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not). Berkay et al. 2023 (PMID: 36385415)- Reported a case with recurrent pregnancy loss, recurrent implantation failure and primary infertility (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.103 | GNRHR |
Jasmine Chew gene: GNRHR was added gene: GNRHR was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNRHR were set to 28348023; 9371856; 36385415 Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110 Review for gene: GNRHR was set to GREEN Added comment: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not). Berkay et al. 2023 (PMID: 36385415)- Reported a case with RPL, RIF, PI (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) Sources: Literature |