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Infertility and Recurrent Pregnancy Loss v0.103 | NUP107 |
Jasmine Chew changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158 - Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis- PMID: 26485283; 34707299; 29363275 (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158 - Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.103 | NUP107 |
Jasmine Chew changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158- Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158 - Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.103 | NUP107 |
Jasmine Chew changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158- Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158- Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.103 | NUP107 |
Jasmine Chew changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158-Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158- Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.103 | NUP107 |
Jasmine Chew gene: NUP107 was added gene: NUP107 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26485283; 34707299; 29363275 Phenotypes for gene: NUP107 were set to Ovarian dysgenesis 6, MIM# 618078 Review for gene: NUP107 was set to GREEN Added comment: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency) https://mednexus.org/doi/full/10.4103/2096-2924.268158-Knockdown of NUP107 expression had little effect on the growth and number of human granulosa cell (GC). Further study confirmed that knockdown of NUP107 may interfere with estrogen synthesis in GCs and their sensitivity to the regulation of follicle-stimulating hormone (FSH) by decreasing the expression of estrogen synthesis-related genes AR, CYP17A1, CYP19A1, STAR, and NR5A1. Moreover, knockdown of NUP107 decreased the expression of AMHR2, FSHR, LHR, and ESR1 in GCs, but had no effect on the expression of ESR2. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.77 | MEIOB |
Jasmine Chew gene: MEIOB was added gene: MEIOB was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEIOB were set to 28206990; 34392356; 35991565; 37715646; 31000419; 39545410; 30838384 Phenotypes for gene: MEIOB were set to Premature ovarian failure 23, MIM# 620686; Spermatogenic failure 22, MIM# 617706 Review for gene: MEIOB was set to GREEN Added comment: Literature in OMIM- PMID: 28206990; 34392356; 35991565; 37715646; 31000419- multiple unrelated infertile males due to spermatogenic failure and females due to premature ovarian failure carrying biallelic variants, supported by functional evidence. New papers: i) PMID: 39545410- previously reported homozygous nonsense p.(Arg272*) in proband 2136 (Egyptian), with a history of 6 early miscarriages, 3 failed intracytoplasmic sperm injection cycles, 1 HM, and low anti-Müllerian hormone (AMH) (2 times ≤0.2 ng/mL). ii) PMID: 30838384- A novel homozygous frameshift variant in two brothers of Arab ethnicity. This frame-shift is predicted to result in a truncated MEIOB protein, which lacks the conserved C-terminal DNA binding domain. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | WT1 |
Jasmine Chew gene: WT1 was added gene: WT1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WT1 were set to 26358501; 34845858 Phenotypes for gene: WT1 were set to Primary ovarian failure, MONDO:0005387 Review for gene: WT1 was set to GREEN Added comment: New papers reported variants associated with POI: i) PMID: 26358501- Two novel heterozygous missense variants (p. Pro126Ser in exon1 and p. Arg370His in exon7) in two unrelated POI patients, and functional study on these two missense variants showed in impaired transcription of downstream genes, including AMH, FSHR, CYP19 and CDH. ii) PMID: 34845858- A de novo heterozygous nonsense variant p.R463* in a non-syndromic POI woman. Western blot analysis further demonstrated that the WT1 variant could produce a truncated WT1 isoform in vitro. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.32 | AMHR2 | Zornitza Stark Marked gene: AMHR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.32 | AMHR2 | Zornitza Stark Gene: amhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.32 | AMHR2 | Zornitza Stark Classified gene: AMHR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.32 | AMHR2 | Zornitza Stark Gene: amhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.31 | AMH | Zornitza Stark Marked gene: AMH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.31 | AMH | Zornitza Stark Gene: amh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.31 | AMH | Zornitza Stark Classified gene: AMH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.31 | AMH | Zornitza Stark Gene: amh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.29 | AMHR2 |
Jasmine Chew gene: AMHR2 was added gene: AMHR2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMHR2 were set to 7493017; 8872466; 19457927; 35052499; 33025551; 34480531 Phenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type I, MIM #261550 Review for gene: AMHR2 was set to GREEN Added comment: Literature in OMIM- PMID: 7493017; 8872466;19457927 New papers: i) PMID: 35052499- compound heterozygous variants in case 2 and case 3 with azoospermia/oligospermia. ii) PMID: 33025551- seven different variants identified in 11 cases from six unrelated Turkish families with PMDS (didn't mention if they were infertile). iii) PMID: 34480531- compound heterozygous variants of c.1387C>T (p.R463C) and c.1219C>T (p.R407X) in exons 9 and 10, respectively, in two brothers who had a history of bilateral cryptorchidism with orchidopexy as well as infertility due to azoospermia. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.29 | AMH |
Jasmine Chew changed review comment from: Literature in OMIM- PMID: 2023927;1483695;11760020 New papers: i) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa ii) PMID: 35052499- homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 in case 1 with non-obstructive azoospermia, leading to the loss of function of AMH. ; to: Literature in OMIM- PMID: 2023927;1483695;11760020 New papers: i) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertility due to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa. ii) PMID: 35052499- homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 in case 1 with non-obstructive azoospermia, leading to the loss of function of AMH. |
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Infertility and Recurrent Pregnancy Loss v0.29 | AMH |
Jasmine Chew changed review comment from: Literature in OMIM- PMID: 2023927;1483695;11760020 New papers: i) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa ii) PMID: 35052499- case 1 with non-obstructive azoospermia carrying homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of AMH, leading to the loss of function of AMH. Sources: Literature; to: Literature in OMIM- PMID: 2023927;1483695;11760020 New papers: i) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa ii) PMID: 35052499- homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 in case 1 with non-obstructive azoospermia, leading to the loss of function of AMH. |
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Infertility and Recurrent Pregnancy Loss v0.29 | AMH |
Jasmine Chew gene: AMH was added gene: AMH was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: AMH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMH were set to 2023927; 1483695; 11760020; 39889328; 35052499 Phenotypes for gene: AMH were set to Persistent Mullerian duct syndrome, type I, MIM# 261550 Review for gene: AMH was set to GREEN Added comment: Literature in OMIM- PMID: 2023927;1483695;11760020 New papers: i) PMID: 39889328 - novel homozygous missense p.Pro550Leu in a Tuscinian man with primary infertilitydue to Persistent Müllerian duct syndrome and biopsy revealed no spermatozoa ii) PMID: 35052499- case 1 with non-obstructive azoospermia carrying homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of AMH, leading to the loss of function of AMH. Sources: Literature |