{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=274","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=272","results":[{"created":"2025-04-04T18:24:16.561482+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KHDC3L as ready","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-04-04T18:24:16.555084+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: khdc3l has been classified as Green List (High Evidence).","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-04-04T18:24:11.844513+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KHDC3L as Green List (high evidence)","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-04-04T18:24:11.837819+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: khdc3l has been classified as Green List (High Evidence).","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-04-04T18:19:20.186778+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Jasmine Chew","item_type":"entity","text":"gene: GDF9 was added\ngene: GDF9 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GDF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDF9 were set to 29044499; 33036707; 38643161\nPhenotypes for gene: GDF9 were set to Premature ovarian failure 14, MIM# 618014\nReview for gene: GDF9 was set to GREEN\nAdded comment: Literature in OMIM- PMID:29044499;33036707 - biallelic variants reported in women with premature ovarian failure, supported by functional evidence\r\n\r\nNew paper:\r\ni)  PMID: 38643161 (2024)- compound heterozygous variants (Q321X/S428T) in two infertile women with defect in follicle enlargement  In vitro experiments confirmed that these variants caused reduction of GDF9 secretion, and/or alleviation in BMP15 binding. Moreover, Q308X/S415T mouse model was constructed, which recapitulated the phenotypes in probands with abnormal estrogen secretion and defected follicle enlargement. n addition, RNA sequencing of granulosa cells revealed the transcriptomic profiles related to defective follicle enlargement in theQ308X/S415T group. \nSources: Literature","entity_name":"GDF9","entity_type":"gene"},{"created":"2025-04-04T17:50:03.405229+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: Literature in OMIM- PMID:24597873- compound heterozygous variants in a familial case and an unrelated individual with primary ovarian failure\r\n\r\nNew papers (single family with monoallelic variant and expansion of phenotypes in females)\r\n i) PMID: 31279343- Novel heterozygous missense variant in HFM1 (c.3470G > A)  in the proband and her mother both affected by POI. Minigene splicing assay of the WT and MT constructs revealed that an alternative splicing process were produced with the c.3470G > A variant in mRNA level. \r\n\r\nii) PMID: 35881270- novel compound heterozygous variants,c.1978-2A > C and c.2680 + 3_2680 + 4delAT, in two sisters with diminished ovarian reserve and recurrent pregnancy loss (RPL) in natural pregnancy and in vitro fertilization-embryo transfer (IVF-ET). Minigene assay showed that both variants could produce alternative transcripts compared to wild-type counterparts, which might result in protein dysfunction. These results demonstrated that RPL caused by the HFM1 gene might be inherited in AR mode, \r\n\r\niii) PMID: 36864181- novel homozygous splicing variant in HFM1 (NM_001017975.6: c.1730-1G > T) in two siblings - female with poor ovarian response and recurrent implantation failure and male with NOA. Minigene assay demonstrated that splicing variants caused abnormal alternative splicing of HFM1. For the sister, she experienced embryo arrest 9 weeks after pregnancy after undergoing 5 cycles of ART.  \r\n\r\niv) PMID: 39929154- reported compound heterozygous variants c.1978-2A>C and c.2681-3T>A in a case of POI with unique genital characteristics; also their lit review showed that previous studies have linked HFM1 gene variants to clinical manifestations such as POI, diminished ovarian reserve, recurrent pregnancy loss, and poor outcomes in in vitro fertilization-embryo transfer. \r\nSources: Literature; to: Literature in OMIM- PMID:24597873- compound heterozygous variants in a familial case and an unrelated individual with primary ovarian failure\r\n\r\nNew papers (single family with monoallelic variant and expansion of phenotypes in females)\r\n i) PMID: 31279343- Novel heterozygous missense variant in HFM1 (c.3470G > A)  in the proband and her mother both affected by POI. Minigene splicing assay of the WT and MT constructs revealed that an alternative splicing process were produced with the c.3470G > A variant in mRNA level. \r\n\r\nii) PMID: 35881270- novel compound heterozygous variants,c.1978-2A > C and c.2680 + 3_2680 + 4delAT, in two sisters with diminished ovarian reserve and recurrent pregnancy loss (RPL) in natural pregnancy and in vitro fertilization-embryo transfer (IVF-ET). Minigene assay showed that both variants could produce alternative transcripts compared to wild-type counterparts, which might result in protein dysfunction. These results demonstrated that RPL caused by the HFM1 gene might be inherited in AR mode, \r\n\r\niii) PMID: 36864181- novel homozygous splicing variant in HFM1 (NM_001017975.6: c.1730-1G > T) in two siblings - female with poor ovarian response and recurrent implantation failure and male with NOA. Minigene assay demonstrated that splicing variants caused abnormal alternative splicing of HFM1. For the sister, she experienced embryo arrest 9 weeks after pregnancy after undergoing 5 cycles of ART.  \r\n\r\niv) PMID: 39929154- reported compound heterozygous variants c.1978-2A>C and c.2681-3T>A in a case of POI with unique genital characteristics; also their lit review showed that previous studies have linked HFM1 gene variants to clinical manifestations such as POI, diminished ovarian reserve, recurrent pregnancy loss, and poor outcomes in in vitro fertilization-embryo transfer. \r\nSources: Literature","entity_name":"HFM1","entity_type":"gene"},{"created":"2025-04-04T17:48:49.087383+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: Literature in OMIM- PMID:24597873- compound heterozygous variants in a familial case and an unrelated individual with primary ovarian failure\r\n\r\nNew papers (single family with monoallelic variant and expansion of phenotypes)\r\n i) PMID: 31279343- Novel heterozygous missense variant in HFM1 (c.3470G > A)  in the proband and her mother both affected by POI. Minigene splicing assay of the WT and MT constructs revealed that an alternative splicing process were produced with the c.3470G > A variant in mRNA level. \r\n\r\nii) PMID: 35881270- novel compound heterozygous variants,c.1978-2A > C and c.2680 + 3_2680 + 4delAT, in two sisters with diminished ovarian reserve and recurrent pregnancy loss (RPL) in natural pregnancy and in vitro fertilization-embryo transfer (IVF-ET). Minigene assay  showed that both variants could produce alternative transcripts compared to wild-type counterparts, which might result in protein dysfunction. These results demonstrated that RPL caused by the HFM1 gene might be inherited in AR mode, \r\n\r\niii) PMID: 36864181 (2023)- novel homozygous splicing variant in HFM1 (NM_001017975.6: c.1730-1G > T) in two siblings - female with poor ovarian response and recurrent implantation failure and male with NOA. Minigene assay demonstrated that splicing variants caused abnormal alternative splicing of HFM1. For the sister, she experienced embryo arrest 9 weeks after pregnancy after undergoing 5 cycles of ART.  \r\n\r\niv) PMID: 39929154 (2025)- reported compound heterozygous variants c.1978-2A>C and c.2681-3T>A in a case of POI with unique genital characteristics; also their lit review showed that previous studies have linked HFM1 gene variants to clinical manifestations such as POI, diminished ovarian reserve, recurrent pregnancy loss, and poor outcomes in in vitro fertilization-embryo transfer. \nSources: Literature; to: Literature in OMIM- PMID:24597873- compound heterozygous variants in a familial case and an unrelated individual with primary ovarian failure\r\n\r\nNew papers (single family with monoallelic variant and expansion of phenotypes in females)\r\n i) PMID: 31279343- Novel heterozygous missense variant in HFM1 (c.3470G > A)  in the proband and her mother both affected by POI. Minigene splicing assay of the WT and MT constructs revealed that an alternative splicing process were produced with the c.3470G > A variant in mRNA level. \r\n\r\nii) PMID: 35881270- novel compound heterozygous variants,c.1978-2A > C and c.2680 + 3_2680 + 4delAT, in two sisters with diminished ovarian reserve and recurrent pregnancy loss (RPL) in natural pregnancy and in vitro fertilization-embryo transfer (IVF-ET). Minigene assay showed that both variants could produce alternative transcripts compared to wild-type counterparts, which might result in protein dysfunction. These results demonstrated that RPL caused by the HFM1 gene might be inherited in AR mode, \r\n\r\niii) PMID: 36864181- novel homozygous splicing variant in HFM1 (NM_001017975.6: c.1730-1G > T) in two siblings - female with poor ovarian response and recurrent implantation failure and male with NOA. Minigene assay demonstrated that splicing variants caused abnormal alternative splicing of HFM1. For the sister, she experienced embryo arrest 9 weeks after pregnancy after undergoing 5 cycles of ART.  \r\n\r\niv) PMID: 39929154- reported compound heterozygous variants c.1978-2A>C and c.2681-3T>A in a case of POI with unique genital characteristics; also their lit review showed that previous studies have linked HFM1 gene variants to clinical manifestations such as POI, diminished ovarian reserve, recurrent pregnancy loss, and poor outcomes in in vitro fertilization-embryo transfer. \r\nSources: Literature","entity_name":"HFM1","entity_type":"gene"},{"created":"2025-04-04T17:47:53.725240+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Jasmine Chew","item_type":"entity","text":"gene: HFM1 was added\ngene: HFM1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: HFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HFM1 were set to 24597873; 31279343; 35881270; 36864181; 39929154\nPhenotypes for gene: HFM1 were set to Premature ovarian failure 9, MIM# 615724\nReview for gene: HFM1 was set to GREEN\nAdded comment: Literature in OMIM- PMID:24597873- compound heterozygous variants in a familial case and an unrelated individual with primary ovarian failure\r\n\r\nNew papers (single family with monoallelic variant and expansion of phenotypes)\r\n i) PMID: 31279343- Novel heterozygous missense variant in HFM1 (c.3470G > A)  in the proband and her mother both affected by POI. Minigene splicing assay of the WT and MT constructs revealed that an alternative splicing process were produced with the c.3470G > A variant in mRNA level. \r\n\r\nii) PMID: 35881270- novel compound heterozygous variants,c.1978-2A > C and c.2680 + 3_2680 + 4delAT, in two sisters with diminished ovarian reserve and recurrent pregnancy loss (RPL) in natural pregnancy and in vitro fertilization-embryo transfer (IVF-ET). Minigene assay  showed that both variants could produce alternative transcripts compared to wild-type counterparts, which might result in protein dysfunction. These results demonstrated that RPL caused by the HFM1 gene might be inherited in AR mode, \r\n\r\niii) PMID: 36864181 (2023)- novel homozygous splicing variant in HFM1 (NM_001017975.6: c.1730-1G > T) in two siblings - female with poor ovarian response and recurrent implantation failure and male with NOA. Minigene assay demonstrated that splicing variants caused abnormal alternative splicing of HFM1. For the sister, she experienced embryo arrest 9 weeks after pregnancy after undergoing 5 cycles of ART.  \r\n\r\niv) PMID: 39929154 (2025)- reported compound heterozygous variants c.1978-2A>C and c.2681-3T>A in a case of POI with unique genital characteristics; also their lit review showed that previous studies have linked HFM1 gene variants to clinical manifestations such as POI, diminished ovarian reserve, recurrent pregnancy loss, and poor outcomes in in vitro fertilization-embryo transfer. \nSources: Literature","entity_name":"HFM1","entity_type":"gene"},{"created":"2025-04-04T17:44:21.608122+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM8 as ready","entity_name":"MCM8","entity_type":"gene"},{"created":"2025-04-04T17:44:21.602367+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm8 has been classified as Green List (High Evidence).","entity_name":"MCM8","entity_type":"gene"},{"created":"2025-04-04T17:44:17.869801+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM8 as Green List (high evidence)","entity_name":"MCM8","entity_type":"gene"},{"created":"2025-04-04T17:44:17.863857+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm8 has been classified as Green List (High Evidence).","entity_name":"MCM8","entity_type":"gene"},{"created":"2025-04-04T17:43:04.730795+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GGN as ready","entity_name":"GGN","entity_type":"gene"},{"created":"2025-04-04T17:43:04.716818+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ggn has been classified as Green List (High Evidence).","entity_name":"GGN","entity_type":"gene"},{"created":"2025-04-04T17:43:01.491782+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"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","entity_name":"GGN","entity_type":"gene"},{"created":"2025-04-04T17:42:29.834716+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GGN as Green List (high evidence)","entity_name":"GGN","entity_type":"gene"},{"created":"2025-04-04T17:42:29.827536+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ggn has been classified as Green List (High Evidence).","entity_name":"GGN","entity_type":"gene"},{"created":"2025-04-04T17:42:11.154686+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKBP6 as ready","entity_name":"FKBP6","entity_type":"gene"},{"created":"2025-04-04T17:42:11.147618+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp6 has been classified as Green List (High Evidence).","entity_name":"FKBP6","entity_type":"gene"},{"created":"2025-04-04T17:42:07.797474+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKBP6 as Green List (high evidence)","entity_name":"FKBP6","entity_type":"gene"},{"created":"2025-04-04T17:42:07.791249+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp6 has been classified as Green List (High Evidence).","entity_name":"FKBP6","entity_type":"gene"},{"created":"2025-04-04T17:41:36.935663+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF4ENIF1 as ready","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:41:36.929425+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4enif1 has been classified as Green List (High Evidence).","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:41:25.035001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2435","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF4ENIF1 were set to 31810472; 23902945; 33095795","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:41:07.738393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2434","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF4ENIF1 as Green List (high evidence)","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:41:07.727915+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4enif1 has been classified as Green List (High Evidence).","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:40:54.948734+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2433","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EIF4ENIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23902945, 39827467, 36030004, 38604507, 31810472, 33095795; Phenotypes: Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:39:43.154415+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF4ENIF1 were set to 31810472; 23902945; 33095795","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:39:31.987835+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF4ENIF1 as Green List (high evidence)","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:39:31.978644+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4enif1 has been classified as Green List (High Evidence).","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:39:24.220583+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EIF4ENIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23902945, 39827467, 36030004, 38604507, 31810472, 33095795; Phenotypes: Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:38:26.539425+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF4ENIF1 as Green List (high evidence)","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:38:26.532922+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4enif1 has been classified as Green List (High Evidence).","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T17:37:12.771762+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPY19L2 as ready","entity_name":"DPY19L2","entity_type":"gene"},{"created":"2025-04-04T17:37:12.765090+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpy19l2 has been classified as Green List (High Evidence).","entity_name":"DPY19L2","entity_type":"gene"},{"created":"2025-04-04T17:37:09.838338+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPY19L2 as Green List (high evidence)","entity_name":"DPY19L2","entity_type":"gene"},{"created":"2025-04-04T17:37:09.832385+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpy19l2 has been classified as Green List (High Evidence).","entity_name":"DPY19L2","entity_type":"gene"},{"created":"2025-04-04T17:36:56.025508+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.19","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: MCM8: Changed rating: GREEN","entity_name":"MCM8","entity_type":"gene"},{"created":"2025-04-04T17:36:53.711376+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP15 as ready","entity_name":"BMP15","entity_type":"gene"},{"created":"2025-04-04T17:36:53.701732+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp15 has been classified as Green List (High Evidence).","entity_name":"BMP15","entity_type":"gene"},{"created":"2025-04-04T17:36:50.464485+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMP15 as Green List (high evidence)","entity_name":"BMP15","entity_type":"gene"},{"created":"2025-04-04T17:36:50.458326+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp15 has been classified as Green List (High Evidence).","entity_name":"BMP15","entity_type":"gene"},{"created":"2025-04-04T17:36:48.050285+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.18","user_name":"Jasmine Chew","item_type":"entity","text":"gene: MCM8 was added\ngene: MCM8 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MCM8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM8 were set to 25437880; 25873734; 40064807; 32048466\nPhenotypes for gene: MCM8 were set to Premature ovarian failure 10, MIM# 612885; Azoospermia, MONDO:0100459\nAdded comment: Literature in OMIM- PMID:25437880;25873734- homozygous variants reported in affected females with premature ovarian failure, supported by functional evidence\r\n\r\nNew papers:\r\ni) PMID: 40064807-  A novel homozygous frameshift variant  (p. Gly333Glufs*50) in two siblings diagnosed with primary gonadal dysgenesis from a consanguineous family. The testes tissue sections in the male showed a Sertoli cell-only syndrome (SCOS). Functional analysis in vitro suggested that the mutation results in a truncated protein of MCM8 in HEK293T cells, and immunohistochemistry in vivo showed decreased expression of MCM8 protein. This study expands the mutational spectrum of MCM8 involved in male NOA and female POI.\r\n\r\nii) PMID: 32048466- A novel homozygous frameshift mutation in the MCM8 gene in two affected sisters with POI. Reverse transcription polymerase chain reaction revealed that the frameshift mutation led to a remarkably reduced level of MCM8 transcript products, and chromosomal instability study showed that the ability of mutant MCM8 to repair DNA breaks was impaired. \nSources: Literature","entity_name":"MCM8","entity_type":"gene"},{"created":"2025-04-04T17:36:34.908617+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AURKC as ready","entity_name":"AURKC","entity_type":"gene"},{"created":"2025-04-04T17:36:34.899419+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aurkc has been classified as Green List (High Evidence).","entity_name":"AURKC","entity_type":"gene"},{"created":"2025-04-04T17:36:32.217199+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AURKC as Green List (high evidence)","entity_name":"AURKC","entity_type":"gene"},{"created":"2025-04-04T17:36:32.208307+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aurkc has been classified as Green List (High Evidence).","entity_name":"AURKC","entity_type":"gene"},{"created":"2025-04-04T17:26:16.717450+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: Literature in OMIM- PMIM:17701902;21837770;25514101- heterozygous missense and LOF variants reported in affected women with primary ovarian insufficiency, supported by functional evidence\r\n\r\nNew papers (expansion of phenotypes and novel biallelic variants reported in POI patients)-\r\ni. PMID: 39871066- A heterozygous missense variant (p.His617Tyr) in two European women with distinct distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype. The same variant has been observed in other two woman experiencing embryonic developmental arrest from the database of Juno Genetics. Given that all affected women have a normal to high ovarian reserve, a typical POI phenotype can be excluded in these cases.\r\n\r\nii. PMID: 34480423- novel compound heterozygous truncating variants (p.Arg276Ter and p.Gly474AlafsTer76) in a Belgian patient presenting POI\r\n\r\niii. PMID: 29067606-  novel homozygous c.1489delT variant in two sisters with POI \nSources: Literature; to: Literature in OMIM- PMIM:17701902;21837770;25514101- heterozygous missense and LOF variants reported in affected women with primary ovarian insufficiency, supported by functional evidence\r\n\r\nNew papers (expansion of phenotypes and novel biallelic variants reported in POI patients)-\r\ni. PMID: 39871066- A heterozygous missense variant (p.His617Tyr) in two European women with distinct distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype. The same variant has been observed in other two woman experiencing embryonic developmental arrest from the database of Juno Genetics. Given that all affected women have a normal to high ovarian reserve, a typical POI phenotype can be excluded in these cases.\r\n\r\nii. PMID: 34480423- Novel compound heterozygous truncating variants (p.Arg276Ter and p.Gly474AlafsTer76) in a Belgian patient presenting POI.\r\n\r\niii. PMID: 29067606-  a novel homozygous c.1489delT variant in two sisters with POI\r\nSources: Literature","entity_name":"NOBOX","entity_type":"gene"},{"created":"2025-04-04T17:25:48.473266+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: NOBOX was added\ngene: NOBOX was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NOBOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NOBOX were set to 17701902; 21837770; 25514101; 39871066; 34480423; 29067606\nPhenotypes for gene: NOBOX were set to Premature ovarian failure 5, MIM# 611548\nReview for gene: NOBOX was set to GREEN\nAdded comment: Literature in OMIM- PMIM:17701902;21837770;25514101- heterozygous missense and LOF variants reported in affected women with primary ovarian insufficiency, supported by functional evidence\r\n\r\nNew papers (expansion of phenotypes and novel biallelic variants reported in POI patients)-\r\ni. PMID: 39871066- A heterozygous missense variant (p.His617Tyr) in two European women with distinct distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype. The same variant has been observed in other two woman experiencing embryonic developmental arrest from the database of Juno Genetics. Given that all affected women have a normal to high ovarian reserve, a typical POI phenotype can be excluded in these cases.\r\n\r\nii. PMID: 34480423- novel compound heterozygous truncating variants (p.Arg276Ter and p.Gly474AlafsTer76) in a Belgian patient presenting POI\r\n\r\niii. PMID: 29067606-  novel homozygous c.1489delT variant in two sisters with POI \nSources: Literature","entity_name":"NOBOX","entity_type":"gene"},{"created":"2025-04-04T16:21:44.492953+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: Literature in OMIM- PMID:28965844;28965849; 35091966- biallelic variants in affected women with infertility due to oocyte maturation arrest\r\n\r\nNew papers- \r\ni) PMID: 32048119-  two novel homozygous missense variants (p.Pro510Thr and p.Ser459Tyr) in three patients from two consanguineous families with female infertility due to oocyte maturation arrest. Western immunoblotting analysis showed that the expression levels of the two novel mutant PATL2 proteins decreased significantly.\r\n\r\nii) PMID: 30765866- four novel homozygous missense variants (p.V260M, p.Q300*, p.T425P, and p.D293Y), a novel frameshift variant (p.N239Tfs*9), and a reported splicing mutation (p.R75Vfs*21) in PATL2 in seven affected individuals from five unrelated families, showing a multiplicity of phenotypes in oocyte maturation arrest, fertilization failure, or embryonic developmental arrest.\r\n\r\niii) PMID: 39476306-  novel compound heterozygous splicing variant (c.516-1G > T and c.877-1G > A) in a woman with oocyte degeneration and fertilization failure. Minigene splicing assays revealed that the c.516-1G > T resulted in a deletion of 8 bases in mRNA that causes a frameshift (p.P173Q fs*13) and the c.877-1G > A led to the skipping of exons 10 and 11 and retention of introns 8-9 in PATL2 mRNA. \r\n\r\niv) PMID: 38536595- 15 novel biallelic variants in 18 families with impaired oocyte maturation, fertilization problems, embryonic arrest, or implantation failure \nSources: Literature; to: Literature in OMIM- PMID:28965844;28965849; 35091966- biallelic variants in affected women with infertility due to oocyte maturation arrest\r\n\r\nNew papers- \r\ni) PMID: 32048119-  two novel homozygous missense variants (p.Pro510Thr and p.Ser459Tyr) in three patients from two consanguineous families with female infertility due to oocyte maturation arrest. Western immunoblotting analysis showed that the expression levels of the two novel mutant PATL2 proteins decreased significantly.\r\n\r\nii) PMID: 30765866- four novel homozygous missense variants (p.V260M, p.Q300*, p.T425P, and p.D293Y), a novel frameshift variant (p.N239Tfs*9), and a reported splicing mutation (p.R75Vfs*21) in PATL2 in seven affected individuals from five unrelated families, showing a multiplicity of phenotypes in oocyte maturation arrest, fertilization failure, or embryonic developmental arrest.\r\n\r\niii) PMID: 39476306-  novel compound heterozygous splicing variant (c.516-1G > T and c.877-1G > A) in a woman with oocyte degeneration and fertilization failure. Minigene splicing assays revealed that the c.516-1G > T resulted in a deletion of 8 bases in mRNA that causes a frameshift (p.P173Q fs*13) and the c.877-1G > A led to the skipping of exons 10 and 11 and retention of introns 8-9 in PATL2 mRNA. \r\n\r\niv) PMID: 38536595- 15 novel biallelic variants in 18 families with infertile women with IVF/ICSI failure due to  impaired oocyte maturation, fertilization problems, embryonic arrest, or implantation failure.\r\nSources: Literature","entity_name":"PATL2","entity_type":"gene"},{"created":"2025-04-04T16:20:52.089052+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: FITM2: Changed publications: 28067622, 30214770, 30288795, 35754111","entity_name":"FITM2","entity_type":"gene"},{"created":"2025-04-04T16:20:38.389967+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: PATL2 was added\ngene: PATL2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PATL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PATL2 were set to 28965844; 28965849; 35091966; 32048119; 30765866; 39476306; 38536595\nPhenotypes for gene: PATL2 were set to Oocyte maturation defect 4, MIM# 617743\nReview for gene: PATL2 was set to GREEN\nAdded comment: Literature in OMIM- PMID:28965844;28965849; 35091966- biallelic variants in affected women with infertility due to oocyte maturation arrest\r\n\r\nNew papers- \r\ni) PMID: 32048119-  two novel homozygous missense variants (p.Pro510Thr and p.Ser459Tyr) in three patients from two consanguineous families with female infertility due to oocyte maturation arrest. Western immunoblotting analysis showed that the expression levels of the two novel mutant PATL2 proteins decreased significantly.\r\n\r\nii) PMID: 30765866- four novel homozygous missense variants (p.V260M, p.Q300*, p.T425P, and p.D293Y), a novel frameshift variant (p.N239Tfs*9), and a reported splicing mutation (p.R75Vfs*21) in PATL2 in seven affected individuals from five unrelated families, showing a multiplicity of phenotypes in oocyte maturation arrest, fertilization failure, or embryonic developmental arrest.\r\n\r\niii) PMID: 39476306-  novel compound heterozygous splicing variant (c.516-1G > T and c.877-1G > A) in a woman with oocyte degeneration and fertilization failure. Minigene splicing assays revealed that the c.516-1G > T resulted in a deletion of 8 bases in mRNA that causes a frameshift (p.P173Q fs*13) and the c.877-1G > A led to the skipping of exons 10 and 11 and retention of introns 8-9 in PATL2 mRNA. \r\n\r\niv) PMID: 38536595- 15 novel biallelic variants in 18 families with impaired oocyte maturation, fertilization problems, embryonic arrest, or implantation failure \nSources: Literature","entity_name":"PATL2","entity_type":"gene"},{"created":"2025-04-04T16:18:29.246326+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: FITM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28067622, 30214770, 30288795, 28067622, 35754111; Phenotypes: Siddiqi syndrome, MIM#618635; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FITM2","entity_type":"gene"},{"created":"2025-04-04T16:07:32.969122+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCB11","entity_type":"gene"},{"created":"2025-04-04T16:01:48.366100+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2025-04-04T16:00:22.317157+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23129421; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SETX","entity_type":"gene"},{"created":"2025-04-04T15:51:44.555765+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Ciliopathy, RPGRIP1L-related, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2025-04-04T15:40:53.168179+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: Literature in OMIM-  PMID:16773570- familial case with POF carrying homozygous R329Q, supported by functional evidence.\r\n\r\nNew papers:\r\n i) PMID: 25676666- reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense variant p.Arg329Gln in a POI case, which explains the phenotype. Functional analysis of the POF1B variant p.Arg329Gln showed diminished binding of the mutant protein to non-muscle actin, and the authors hypothesized a possible role for POF1B in pairing of meiotic chromosomes or as an anti-apoptotic factor. \r\n\r\nii) PMID: 34423420- novel homozygous missense variant p.K311T in a Chinese patient with POF, adjacent to the known  p.R329Q variant, suggesting that would damage the capacity of POF1B to bind non-muscle actin filaments.\r\n\r\niii) PMID: 34707299 - homozygous missense variant p.(Arg329Gln) in a female with POI (identical to PMID:16773570). \r\nSources: Literature; to: Literature in OMIM-  PMID:16773570- familial case with POF carrying  homozygous missense variant R329Q, supported by functional evidence.\r\n\r\nNew papers:\r\n i) PMID: 25676666- reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense variant p.Arg329Gln in a POI case, which explains the phenotype. Functional analysis of the POF1B variant p.Arg329Gln showed diminished binding of the mutant protein to non-muscle actin, and the authors hypothesized a possible role for POF1B in pairing of meiotic chromosomes or as an anti-apoptotic factor. \r\n\r\nii) PMID: 34423420- novel homozygous missense variant p.K311T in a Chinese patient with POF, adjacent to the known  p.R329Q variant, suggesting that would damage the capacity of POF1B to bind non-muscle actin filaments.\r\n\r\niii) PMID: 34707299 - homozygous missense variant p.(Arg329Gln) in a female with POI (identical to PMID:16773570). \r\nSources: Literature","entity_name":"POF1B","entity_type":"gene"},{"created":"2025-04-04T15:40:42.111309+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: Literature in OMIM-  PMID:16773570- familial case with POF carrying homozygous R329Q, supported by functional evidence.\r\n\r\nNew papers:\r\n i) PMID: 25676666- reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense variant p.Arg329Gln in a POI case, which explains the phenotype. Functional analysis of the POF1B variant p.Arg329Gln showed diminished binding of the mutant protein to non-muscle actin, and the authors hypothesized a possible role for POF1B in pairing of meiotic chromosomes or as an anti-apoptotic factor. \r\n\r\nii) PMID: 34423420- novel homozygous missense variant p.K311T in a Chinese patient with POF, adjacent to the known  p.R329Q variant, suggesting that would damage the capacity of POF1B to bind non-muscle actin filaments.\r\n\r\niii) PMID: 34707299 - homozygous missense variant p.(Arg329Gln) in a female with POI (identical to PMID:16773570). \nSources: Literature; to: Literature in OMIM-  PMID:16773570- familial case with POF carrying homozygous R329Q, supported by functional evidence.\r\n\r\nNew papers:\r\n i) PMID: 25676666- reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense variant p.Arg329Gln in a POI case, which explains the phenotype. Functional analysis of the POF1B variant p.Arg329Gln showed diminished binding of the mutant protein to non-muscle actin, and the authors hypothesized a possible role for POF1B in pairing of meiotic chromosomes or as an anti-apoptotic factor. \r\n\r\nii) PMID: 34423420- novel homozygous missense variant p.K311T in a Chinese patient with POF, adjacent to the known  p.R329Q variant, suggesting that would damage the capacity of POF1B to bind non-muscle actin filaments.\r\n\r\niii) PMID: 34707299 - homozygous missense variant p.(Arg329Gln) in a female with POI (identical to PMID:16773570). \r\nSources: Literature","entity_name":"POF1B","entity_type":"gene"},{"created":"2025-04-04T15:40:31.326327+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: POF1B was added\ngene: POF1B was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: POF1B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: POF1B were set to 16773570; 34707299; 25676666; 34423420\nPhenotypes for gene: POF1B were set to Premature ovarian failure 2B, MIM# 300604\nReview for gene: POF1B was set to GREEN\nAdded comment: Literature in OMIM-  PMID:16773570- familial case with POF carrying homozygous R329Q, supported by functional evidence.\r\n\r\nNew papers:\r\n i) PMID: 25676666- reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense variant p.Arg329Gln in a POI case, which explains the phenotype. Functional analysis of the POF1B variant p.Arg329Gln showed diminished binding of the mutant protein to non-muscle actin, and the authors hypothesized a possible role for POF1B in pairing of meiotic chromosomes or as an anti-apoptotic factor. \r\n\r\nii) PMID: 34423420- novel homozygous missense variant p.K311T in a Chinese patient with POF, adjacent to the known  p.R329Q variant, suggesting that would damage the capacity of POF1B to bind non-muscle actin filaments.\r\n\r\niii) PMID: 34707299 - homozygous missense variant p.(Arg329Gln) in a female with POI (identical to PMID:16773570). \nSources: Literature","entity_name":"POF1B","entity_type":"gene"},{"created":"2025-04-04T15:34:09.307122+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377, 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAD50","entity_type":"gene"},{"created":"2025-04-04T15:30:20.329860+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: PRDM9 was added\ngene: PRDM9 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM9 were set to 34257419\nPhenotypes for gene: PRDM9 were set to Primary ovarian insufficiency, MONDO:0005387\nReview for gene: PRDM9 was set to GREEN\nAdded comment: i) PMID: 34257419 (2021): 3 heterozygous variants in 4 unrelated  premature ovarian insufficiency (POI) patients (P1,2- p.Arg77*, P3- p.Lys226Met, P4- p.Ile213Ser); All mutant proven to affect the H3K4 methyltransferase activity of the protein and more apoptotic oocytes were observed in Prdm9+/- mice ovaries indicating the heterozygous knockout oocytes were more susceptible to exogenous stress. \nSources: Literature","entity_name":"PRDM9","entity_type":"gene"},{"created":"2025-04-04T15:23:25.847863+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: PSMC3IP was added\ngene: PSMC3IP was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PSMC3IP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3IP were set to 21963259; 35352317; 34878148; 30406445; 29240891\nPhenotypes for gene: PSMC3IP were set to Ovarian dysgenesis 3, MIM# 614324\nReview for gene: PSMC3IP was set to GREEN\nAdded comment: Literature in OMIM- PMID:21963259\r\n\r\nNew papers (new variants reported)- PMID:35352317; 34878148; 30406445; 29240891 (Supported by functional evidence in 25820426) \nSources: Literature","entity_name":"PSMC3IP","entity_type":"gene"},{"created":"2025-04-04T15:23:07.421866+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB27A","entity_type":"gene"},{"created":"2025-04-04T15:20:55.600060+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"QDPR","entity_type":"gene"},{"created":"2025-04-04T15:18:55.495667+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PUS1","entity_type":"gene"},{"created":"2025-04-04T15:15:03.073355+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRX","entity_type":"gene"},{"created":"2025-04-04T15:12:44.028275+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: SOHLH1 was added\ngene: SOHLH1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SOHLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SOHLH1 were set to 25774885; 20506135; 28718531; 38448741; 34448846\nPhenotypes for gene: SOHLH1 were set to Ovarian dysgenesis 5, MIM #617690; Spermatogenic failure 32, MIM #618115\nReview for gene: SOHLH1 was set to GREEN\nAdded comment: Literature in OMIM- PMID:25774885; 20506135; 28718531 \r\n\r\nNew papers for ovarian dysgenesis:\r\ni) PMID: 38448741- novel homozygous missense variant (Ser92Leu) in three affected females from an inbred Mexican family with familial ovarian dysgenesis. Histological examination showed ovarian cortex marked by fibrosis and an almost complete absence of follicle, which was consistent with the findings in the gonads of Sohlh1-deficient mice (PMID: 16690745).\r\n\r\nNew papers for spermatogenic failure (new recessive-inheritance pattern of SOHLH1-associated male infertility):\r\ni) PMID: 34448846- homozygous c.346-1G > A  variant in a severe oligozoospermia (SOZ) patient, characterized with severely decreased sperm count. The homozygous variant leads to the sharp decrease in various germ cells and spermatogenesis dysfunction, which is similar to the phenotype of SOHLH1 knockout male mice (PMID: 30614095). Suggested that previously reported heterozygous c.346-1G > A variant is associated with teratozoospermia but not a direct cause for NOA and the homozygous c.346-1G > A variant impairs spermatogenesis and further leads to the reduced sperm count, eventually causing male infertility. \nSources: Literature","entity_name":"SOHLH1","entity_type":"gene"},{"created":"2025-04-04T15:03:21.123183+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM12","entity_type":"gene"},{"created":"2025-04-04T14:50:52.825437+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: BMP15 was added\ngene: BMP15 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BMP15 was set to Other\nPublications for gene: BMP15 were set to 15136966; 16508750; 16464940; 19263482; 39850788; 35861920\nPhenotypes for gene: BMP15 were set to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510\nReview for gene: BMP15 was set to GREEN\nAdded comment: Literature in OMIM (PMID: 15136966;16508750;16464940;19263482)- multiple affected females carrying monoallelic variants with POI+/- ovarian dysgenesis.\r\n\r\nNew papers reporting on biallelic variants in affected females:\r\ni) PMID: 39850788-  novel homozygous variant  (p.C320Y) in 2 Palestinian sisters born to consanguineous parents with ovarian dysgenesis and primary amenorrhea; in-vitro assay also showed decreased in BMP signaling in cells expressing the homozygous BMP15 mutant when compared to the WT control.\r\nii) PMID: 35861920- novel compound heterozygous variant (p. R264Q and p. P359L) in two siblings with POI. Both missense variants reduced the level of the BMP15 protein and impaired the function of BMP15 in promoting granulosa cell proliferation in vitro. \nSources: Literature","entity_name":"BMP15","entity_type":"gene"},{"created":"2025-04-04T14:35:12.419135+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: EIF4ENIF1: Changed rating: GREEN","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T14:35:08.341734+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: EIF4ENIF1 was added\ngene: EIF4ENIF1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: EIF4ENIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF4ENIF1 were set to 23902945; 39827467; 36030004; 38604507; 31810472; 33095795\nPhenotypes for gene: EIF4ENIF1 were set to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related\nAdded comment: i) PMID: 23902945- heterozygous stop gained p. Ser429X variant in 6 POI-affected women segregated in a large family; mRNA in white blood cells from 3 affected women demonstrated nonsense mutant transcript at a decreased proportion compared with that in gDNA, suggesting haploinsufficiency or dominant negative effect. A stop-gain mouse model was created for the heterozygous variant by PMID: 39827467 (2025), which replicated POI phenotype in women (i.e., decreased reproductive lifespan and early oocyte loss).\r\n\r\n ii) PMID: 36030004 - two variants, p.R4del and (p.G954A in two sporadic Han Chinese POI patients. Western blot analysis further demonstrated that both of the two variants exhibited reduced mRNA and protein expression levels compared with the wild-type in vitro\r\n\r\niii) PMID: 38604507 - novel missense variant (p.R208H)  in a patient with POI and in vitro transfection study showed that overexpression R208H significantly (P < 0.0001) lowered the overall translation efficiency, whereas exhibiting a reduced translation inhibitory effect on high-TE genes (TE > 2 in GFP control group). \nSources: Literature","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2025-04-04T14:20:52.925333+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31479177, 30561130, 28017832; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085, Cholestasis, progressive familial intrahepatic, 12 MIM#620010, Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS33B","entity_type":"gene"},{"created":"2025-04-04T14:08:02.806104+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: SYCP3: Changed rating: GREEN","entity_name":"SYCP3","entity_type":"gene"},{"created":"2025-04-04T14:07:33.789130+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: KHDC3L: Changed rating: GREEN","entity_name":"KHDC3L","entity_type":"gene"},{"created":"2025-04-04T13:57:38.748662+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, infantile, MIM#617222, Sudden cardiac failure, alcohol-induced, MIM#617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPA2","entity_type":"gene"},{"created":"2025-04-04T13:45:37.705687+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: ZP1 was added\ngene: ZP1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZP1 were set to 24670168; 30810869; 36385415; 39380244; 36529558\nPhenotypes for gene: ZP1 were set to Oocyte/zygote/embryo maturation arrest 1, MIM# 615774\nReview for gene: ZP1 was set to GREEN\nAdded comment: Literature in OMIM (PMID: 24670168;30810869)- familial cases with homozygous missense/frameshift variant in affected women with primary infertility due to oocyte maturation defect; supported by functional evidence.\r\n\r\nNew papers:\r\ni) PMID: 36385415-  homozygous nonsense variant p.Gln210Ter in a case with primary infertility (C19)\r\n\r\nii) PMID: 39380244;36529558- homozygous missense variants in the same AA position (p.Arg366Trp and p.Arg366Gln) in unrelated females with with empty follicle syndrome; supported by functional evidence \nSources: Literature","entity_name":"ZP1","entity_type":"gene"},{"created":"2025-04-04T13:38:19.425267+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22840364, 22840363, 26374189, 26162852, 26791357; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC1A","entity_type":"gene"},{"created":"2025-04-04T13:35:03.005317+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: ZP2 was added\ngene: ZP2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZP2 were set to 29895852; 30810869; 39443359; 33604805\nPhenotypes for gene: ZP2 were set to Oocyte/zygote/embryo maturation arrest 6, MIM# 618353\nAdded comment: Literature in OMIM (PMID: 29895852; 30810869)- familial cases with homozygous variants (splice and missense) reported in affected women with defective/absent oocyte zona pellucida, supported by functional evidence \r\n\r\nNew papers- \r\ni) PMID: 39443359- novel compound heterozygous variant (c.1924C > T and c.1695-2A > G) in a Chinese Han family with primary female infertility due to oocyte degeneration caused by absent/thin ZP; both variants (c.1924C > T and c.1695-2A > G) resulted in truncated ZP2 proteins (p.R642X and p.C566Hfs*2) that lost the transmembrane domain, which prevented the secretion of the mutant ZP2 proteins and produced a structurally abnormal ZP.\r\n\r\nii) PMID: 33604805- novel homozygous  frameshift variant (p.Q412Rfs*17) in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype, supported by functional evidence. \nSources: Literature","entity_name":"ZP2","entity_type":"gene"},{"created":"2025-04-04T13:33:14.519087+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP1","entity_type":"gene"},{"created":"2025-04-04T13:30:49.295917+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871, 12522768, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX7","entity_type":"gene"},{"created":"2025-04-04T13:30:26.521972+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1 MIM#259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCIRG1","entity_type":"gene"},{"created":"2025-04-04T13:27:43.875680+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: Only a single family reported with recessive inheritance.\r\n\r\nOver 30 families reported with dominant disease.\r\n\r\nAge of onset typically between the second and fifth decades of life.\r\n\r\nMarking as red for carrier screening due to age of onset and limited evidence for recessive disease.; to: Only a single family reported with recessive inheritance.\r\n\r\nOver 30 families reported with dominant disease.\r\n\r\nAge of onset typically between the second and fifth decades of life. Peak age of onset in second decade (range childhood to 76 years) (OMIM).\r\n\r\nMarking as red for carrier screening due to age of onset and limited evidence for recessive disease.","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-04T13:25:41.549379+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: Only a single family reported with recessive inheritance.\r\n\r\nOver 30 families reported with dominant disease.\r\n\r\n Age of onset typically between the second and fifth decades of life.; to: Only a single family reported with recessive inheritance.\r\n\r\nOver 30 families reported with dominant disease.\r\n\r\nAge of onset typically between the second and fifth decades of life.\r\n\r\nMarking as red for carrier screening due to age of onset and limited evidence for recessive disease.","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-04T13:23:43.403379+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: LRSAM1: Changed publications: 38330802, 33568173","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2025-04-04T13:22:00.413456+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11 MIM#617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D23","entity_type":"gene"},{"created":"2025-04-04T13:18:50.145202+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: TACC3: Changed phenotypes: Female infertility due to oocyte meiotic arrest, MONDO:0044626","entity_name":"TACC3","entity_type":"gene"},{"created":"2025-04-04T13:17:54.275602+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"changed review comment from: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. \r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated); to: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. \r\n","entity_name":"TACC3","entity_type":"gene"},{"created":"2025-04-04T13:15:16.882015+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323, 20301507; Phenotypes: Congenital disorder of glycosylation, type Iq MIM#612379, Kahrizi syndrome#612713, SRD5A3-congenital disorder of glycosylation (MONDO:0012885); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2025-04-04T13:13:53.975333+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: ZP3 was added\ngene: ZP3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ZP3 were set to 28886344; 30810869; 39932488; 37908588\nPhenotypes for gene: ZP3 were set to Oocyte/zygote/embryo maturation arrest 3, MIM# 617712\nReview for gene: ZP3 was set to GREEN\nAdded comment: Literature in OMIM (PMID: 28886344;30810869)- familial cases with heterozygous missense variants supported by functional evidence (dominant-negative effect).\r\n\r\nNew papers-\r\ni) PMID: 39932488- 4 heterozygous missense variants (2 novel, 2 known) with  primary infertility, characterized by zona pellucida abnormalities or abnormal oocyte morphology. Also quoted that \"To date, no studies have reported successful pregnancies in patients with ZP3 variants, suggesting that ZP3 plays an indispensable role in zona pellucida assembly and that ZP3 deficiency currently has no effective solution.\"\r\n\r\nii) PMID: 37908588- novel homozygous missense variant in a female with empty follicle syndrome (EFS), who failed to retrieve any oocytes after three rounds of ovarian stimulation despite the presence of large follicles. \nSources: Literature","entity_name":"ZP3","entity_type":"gene"},{"created":"2025-04-04T12:55:27.179839+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1826","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 37023243, 26637978, 26637979, 29453449; Phenotypes: Congenital disorder of glycosylation, type IIn MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2025-04-04T12:52:46.550824+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: TUBB8 was added\ngene: TUBB8 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TUBB8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TUBB8 were set to 26789871; 27273344; 33970371; 39834092\nPhenotypes for gene: TUBB8 were set to Oocyte/zygote/embryo maturation arrest 2, MIM# 616780\nReview for gene: TUBB8 was set to GREEN\nAdded comment: Literature from OMIM (PMID: 26789871;27273344)- multiple familial cases and supporting functional evidence (monoallelic- dominant-negative effect; biallelic- functionally null, disrupt spindle assembly and cause abnormalities in oocyte maturation, fertilization, and embryonic development)\r\n\r\nMore recent supporting evidence- \r\ni) PMID: 39834092- functional evidence elucidating how TUBB8 missense variants cause oocyte maturation arrest\r\nii) PMID: 33970371- 29 variants in TUBB8 from 32 independent families with female infertility, of which 20 were novel, expanding the variant spectrum of TUBB8 (i.e., extremely involved in complete cleavage failure and embryonic arrest) \nSources: Literature","entity_name":"TUBB8","entity_type":"gene"},{"created":"2025-04-04T12:19:03.769239+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Jasmine Chew","item_type":"entity","text":"gene: AURKC was added\ngene: AURKC was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: AURKC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AURKC were set to 17435757; 19147683; 21733974\nPhenotypes for gene: AURKC were set to Spermatogenic failure 5, MIM #243060\nReview for gene: AURKC was set to GREEN\nAdded comment: i) PMID: 17435757- homozygous 1bp del (c.144delC; 603495.0001) in 10 infertile men (4 were unrelated French citizens of African descent) with a large-headed sperm phenotype, which  resulted in premature termination of translation, yielding a truncated protein that lacks the kinase domain\r\nii) PMID: 19147683 - homozygous c.144delC found in 31 patients and compound heterozygous for c.144delC and a missense variant (C229Y) in 30 patients with large-headed spermatozoa\r\n\r\niii) PMID: 21733974- compound heterozygous for the c.144delC variant and a splice variant ((c.436-2A-G; predicted to cause skipping of exon 5) in 2 infertile brothers of Tunisian descent with macrozoospermia and a younger sister who had yet tried to achieve pregnancy \nSources: Literature","entity_name":"AURKC","entity_type":"gene"},{"created":"2025-04-04T12:01:33.300580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2433","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC20 as ready","entity_name":"CDC20","entity_type":"gene"},{"created":"2025-04-04T12:01:33.293287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc20 has been classified as Green List (High Evidence).","entity_name":"CDC20","entity_type":"gene"},{"created":"2025-04-04T12:01:20.763146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2433","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC20 as Green List (high evidence)","entity_name":"CDC20","entity_type":"gene"},{"created":"2025-04-04T12:01:20.755735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc20 has been classified as Green List (High Evidence).","entity_name":"CDC20","entity_type":"gene"},{"created":"2025-04-04T12:01:04.840812+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2432","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDC20 was added\ngene: CDC20 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDC20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC20 were set to 32666501; 33683667; 33898437; 34218387\nPhenotypes for gene: CDC20 were set to Oocyte/zygote/embryo maturation arrest 14, MIM# 620276\nReview for gene: CDC20 was set to GREEN\nAdded comment: i) PMID: 32666501- Biallelic (homozygous/compound heterozygous) variants in 5 unrelated Chinese women with infertility due to oocyte maturation arrest. Knocked down mouse oocytes showed an metaphase I (MI) arrest phenotype that could be rescued by injection of wildtype human CDC20 cRNA; all of the variants significantly reduced the ability of CDC20 to rescue the phenotype.\r\n\r\nii) PMID: 33683667- a compound heterozygous (missense and nonsense) variant in a Chinese woman with infertility due to oocyte maturation abnormalities and early embryonic arrest.\r\n\r\niii) PMID: 33898437- 4 patients from 3 Chinese families with homozygous or compound heterozygous variants with infertility due to oocyte maturation arrest, fertilization failure, and early embryonic arrest. Functional analysis in mouse oocytes with knockdown of Cdc20 showed that the homozygous and compound heterozygous variants significantly reduced the ability of CDC20 to rescue the lack of PB1 extrusion (MI arrest).\r\n\r\niv) PMID: 34218387- homozygous missense variant in a Chinese woman with infertility due to oocyte maturation arrest at MI and fertilization failure of MII oocytes. \nSources: Literature","entity_name":"CDC20","entity_type":"gene"},{"created":"2025-04-04T11:59:46.706347+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC20 as ready","entity_name":"CDC20","entity_type":"gene"},{"created":"2025-04-04T11:59:46.700066+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc20 has been classified as Green List (High Evidence).","entity_name":"CDC20","entity_type":"gene"}]}