| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v1.2 | GGN | Zornitza Stark reviewed gene: GGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.24 | GGN | Zornitza Stark Marked gene: GGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.24 | GGN | Zornitza Stark Gene: ggn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.24 | GGN | Zornitza Stark Mode of pathogenicity for gene: GGN was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.23 | GGN | Zornitza Stark Classified gene: GGN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.23 | GGN | Zornitza Stark Gene: ggn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | GGN |
Jasmine Chew changed review comment from: i) PubMed: 31985809 (2020)- homozygous 1bp deletion causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia. ii) PubMed: 33108537 (2021)- homozygous 22bp deletion in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated. iii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. Sources: Literature; to: i) PubMed: 31985809 (2020)- homozygous 1bp deletion causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia. ii) PubMed: 33108537 (2021)- homozygous 22bp deletion in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated. iii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | GGN |
Jasmine Chew changed review comment from: i) PubMed: 31985809 (2020)- hom 1bp del causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia. ii) PubMed: 33108537 (2021)- hom 22bp del in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated. iii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. Sources: Literature; to: i) PubMed: 31985809 (2020)- homozygous 1bp deletion causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia. ii) PubMed: 33108537 (2021)- homozygous 22bp deletion in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated. iii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | GGN |
Jasmine Chew gene: GGN was added gene: GGN was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: GGN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGN were set to Spermatogenic failure 69, MIM# 619826 Mode of pathogenicity for gene: GGN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GGN was set to GREEN Added comment: i) PubMed: 31985809 (2020)- hom 1bp del causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia. ii) PubMed: 33108537 (2021)- hom 22bp del in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated. iii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||