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"count": 220937,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=206",
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"results": [
{
"created": "2025-06-26T23:12:08.504680+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:12:08.497952+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:12:03.241057+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B4 as Green List (high evidence)",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:12:03.233915+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:48.064077+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:48.056639+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:42.214050+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B2 as Green List (high evidence)",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:42.206956+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:13.015934+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGPS1 as ready",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:13.008592+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:08.525866+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGPS1 as Green List (high evidence)",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:11:08.518219+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggps1 has been classified as Green List (High Evidence).",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:10:44.884253+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C11orf80 as ready",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:10:44.877721+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c11orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:10:40.461838+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C11orf80 were set to ",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:10:23.212132+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C11orf80 as Amber List (moderate evidence)",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:10:23.204046+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c11orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:10:16.216023+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C11orf80.",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:08:50.229986+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SQSTM1 were set to 22084127; 22972638",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:08:19.508408+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SQSTM1 as Green List (high evidence)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2025-06-26T23:08:19.498994+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Green List (High Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2025-06-26T22:08:00.103246+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX17 were changed from Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related to Pulmonary hypertension, primary, 7, MIM# 621248",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2025-06-26T22:07:47.148875+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX17: Changed phenotypes: Pulmonary hypertension, primary, 7, MIM# 621248",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2025-06-26T22:07:21.432094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924 to Vesicoureteral reflux 3 MIM#613674; Pulmonary hypertension, primary, 7, MIM# 621248",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2025-06-26T22:06:58.049700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX17: Changed phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary hypertension, primary, 7, MIM# 621248",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2025-06-23T16:10:57.307470+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.41",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27554286, 31362587, 28490746, 31859009, 23942205; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:35:15.954046+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: PMID: 30339840- Homozygous del p.L127Wfs in a consanguineous family of 3 sisters with unexplained RPL. In vitro study also showed that mRNA expression of CAPS was downregulated in decidual and placental villous tissues of RPL patients, and CAPS expression in CAPS–homo-919–transfected cells showed a significant decrease compared with the other groups. Transwell assay with Matrigel also revealed that CAPS–homo-919 could affect JAR cell invasion compared with NC (P < 0.01), which might impair trophoblast infiltration ability. An enzyme-linked immunosorbent assay showed that CAPS–homo-919 could induce a dramatic increase in PGE2 release from the RL95-2 cells (P < 0.05), compared with NC. \nSources: Literature; to: PMID: 30339840- Homozygous p.L127Wfs in a consanguineous family of 3 sisters with unexplained RPL. In vitro study also showed that mRNA expression of CAPS was downregulated in decidual and placental villous tissues of RPL patients, and CAPS expression in CAPS–homo-919–transfected cells showed a significant decrease compared with the other groups. Transwell assay with Matrigel also revealed that CAPS–homo-919 could affect JAR cell invasion compared with NC (P < 0.01), which might impair trophoblast infiltration ability. An enzyme-linked immunosorbent assay showed that CAPS–homo-919 could induce a dramatic increase in PGE2 release from the RL95-2 cells (P < 0.05), compared with NC. \r\nSources: Literature",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:35:05.407819+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CAPS was added\ngene: CAPS was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CAPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPS were set to 30339840\nPhenotypes for gene: CAPS were set to Recurrent pregnancy loss\nReview for gene: CAPS was set to AMBER\nAdded comment: PMID: 30339840- Homozygous del p.L127Wfs in a consanguineous family of 3 sisters with unexplained RPL. In vitro study also showed that mRNA expression of CAPS was downregulated in decidual and placental villous tissues of RPL patients, and CAPS expression in CAPS–homo-919–transfected cells showed a significant decrease compared with the other groups. Transwell assay with Matrigel also revealed that CAPS–homo-919 could affect JAR cell invasion compared with NC (P < 0.01), which might impair trophoblast infiltration ability. An enzyme-linked immunosorbent assay showed that CAPS–homo-919 could induce a dramatic increase in PGE2 release from the RL95-2 cells (P < 0.05), compared with NC. \nSources: Literature",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:33:25.204858+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MTHFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTHFR were set to 37260775; 39534907; 38322638\nPhenotypes for gene: MTHFR were set to Recurrent pregnancy loss susceptibility\nReview for gene: MTHFR was set to AMBER\nAdded comment: PMID: 37260775- RPL5 couple was found to be carriers for mutation in the MTHFR gene. It is already known that women with a MTHFR variant have a higher risk for pregnancy-related issues such as miscarriages, preeclampsia, or a baby born with birth defects, such as spina bifida. The theory behind the connection between the MTHFR mutation and pregnancy loss is that tiny blood clots are formed because of homocysteinemia, which blocks the flow of nutrition to the placenta, essentially starving the fetus and triggering a spontaneous abortion (Dell’dera et al., 2018- PMID: 29435277).\r\n\r\nii) PMID: 39534907- The MTHFR C677T variant showed strong associations with unexplained RPL, particularly the CT genotype (OR: 6.07, 95% CI: 3.00-12.93; p < 0.001) and TT genotype (OR: 14.62, 95% CI: 2.85-114.77; p = 0.003) in Vietnamese population.\r\n\r\niii) PMID: 38322638- 6.2% of couples with a history of RPL had MTHFR C677T in an Iranian population\r\n\r\nNote: MTHFR is a thrombophilic marker and DNA methylation- PMID: 34745108). \nSources: Literature",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:30:53.141776+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FKBP4 was added\ngene: FKBP4 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FKBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FKBP4 were set to 31504499\nPhenotypes for gene: FKBP4 were set to Recurrent pregnancy loss susceptibility\nReview for gene: FKBP4 was set to AMBER\nAdded comment: i) PMID: 31504499- Four heterozygous missense variants (Ala16Glu, Asn125Ser, Gln381Leu, Arg399Gln) at conserved residues within two functional domains of FKBP52 identified in four different Asian patients with RPL. The variants were predicted to have damaging effects to structure-function properties and were shown to abrogate PPIase activity in a cell-based assay. \r\n- Although FKBP4 heterozygous null animals were all fertile and without reproductive failures, both male and female homozygous mice were reported to be infertile, highlighting the importance of FKBP52 in reproduction. Interestingly, male null mice were found to produce viable spermatozoa but had defects in reproductive tissues consistent with androgen insensitivity. Female null mice were anatomically normal, but infertility was found to be a consequence of either implantation failure or pregnancy loss following implantation, which was associated with impaired progesterone function.\r\n- There remains a possibility that this apparent population bias might suggest an Asian specific cause of RPL. \nSources: Literature",
"entity_name": "FKBP4",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:29:02.987945+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: PMID: 23508668- Five unrelated female with history of recurrent RPL (<10 weeks) carrying het missnese variants (See table 3- G423E, R120H, I126T, P4Q). l. The I126T mutation in CCP2 of C4BP α-chain is of particular interest as it was found only in one patient but not in healthy controls. This rare mutation affected both expression level of C4BP α-chain as well as its function, i.e., degradation of C4b and C3b in solution. R120H, found in two patients and no controls, increased the ability of C4BP to act as cofactor in degradation of C4b but decreased its activity in degradation of C3b both in solution and deposited on the cell surface. The other 2 variants have been observed in controls. However, they observed that homozygous C4BP knockout mice often die during second or third pregnancy (unpublished observation). This would imply a pivotal role of this protein in maintenance of successful pregnancy, although the mechanism is not known. \nSources: Literature; to: PMID: 23508668- Five unrelated female with history of recurrent RPL (<10 weeks) carrying het missnese variants (See table 3- G423E, R120H, I126T, P4Q). \r\n- The I126T mutation in CCP2 of C4BP α-chain is of particular interest as it was found only in one patient but not in healthy controls. This rare mutation affected both expression level of C4BP α-chain as well as its function, i.e., degradation of C4b and C3b in solution. \r\nR120H, found in two patients and no controls, increased the ability of C4BP to act as cofactor in degradation of C4b but decreased its activity in degradation of C3b both in solution and deposited on the cell surface. The other 2 variants have been observed in controls. \r\n- Homozygous C4BP knockout mice often die during second or third pregnancy (unpublished observation). This would imply a pivotal role of this protein in maintenance of successful pregnancy, although the mechanism is not known. \r\nSources: Literature",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:28:13.001461+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: C4BPA was added\ngene: C4BPA was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: C4BPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C4BPA were set to 23508668\nPhenotypes for gene: C4BPA were set to recurrent pregnancy loss susceptibility\nReview for gene: C4BPA was set to AMBER\nAdded comment: PMID: 23508668- Five unrelated female with history of recurrent RPL (<10 weeks) carrying het missnese variants (See table 3- G423E, R120H, I126T, P4Q). l. The I126T mutation in CCP2 of C4BP α-chain is of particular interest as it was found only in one patient but not in healthy controls. This rare mutation affected both expression level of C4BP α-chain as well as its function, i.e., degradation of C4b and C3b in solution. R120H, found in two patients and no controls, increased the ability of C4BP to act as cofactor in degradation of C4b but decreased its activity in degradation of C3b both in solution and deposited on the cell surface. The other 2 variants have been observed in controls. However, they observed that homozygous C4BP knockout mice often die during second or third pregnancy (unpublished observation). This would imply a pivotal role of this protein in maintenance of successful pregnancy, although the mechanism is not known. \nSources: Literature",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:13:12.465877+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DAP3 was added\ngene: DAP3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAP3 were set to 39701103\nPhenotypes for gene: DAP3 were set to Perrault syndrome 7, MIM# 621101\nReview for gene: DAP3 was set to GREEN\nAdded comment: PMID: 39701103- biallelic variants in 3 unrelated patients. Proteomic analysis in patient fibroblasts showed reduced DAP3 expression, reduced expression of respiratory chain complexes I, III, and IV, and decreased expression of proteins encompassing the small mitoribosomal subunit complex. Patient fibroblasts transduced with wildtype DAP3 demonstrated partial rescue of mitoribosomal MRPS7 (611974) and MRPS9 (611975) protein levels. \nSources: Literature",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:10:10.344360+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CLPB was added\ngene: CLPB was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPB were set to 36074910\nPhenotypes for gene: CLPB were set to Primary ovarian insufficiency\nReview for gene: CLPB was set to GREEN\nAdded comment: PMID: 36074910- A novel splicing variant is associated with CLPB deficiency in an individual who survived to adulthood. POI is a common feature of postpubertal female individuals with CLPB deficiency. \nSources: Literature",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2025-06-22T23:07:26.598473+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Note- HGNC Approved Gene Symbol: KASH5 (MIM #618125)\r\n\r\nLiterature in OMIM- PMID: 29790874; 35674372; 36864840;35708642- multiple unrelated infertile females (diminished ovarian reserve, recurrent miscarriage) and males (NOA) with different biallelic variants\r\n\r\nNew paper:\r\ni) PMID: 39545410- Compound heterozygous variants pArg519* and p.Leu535Gln in patient 439 (Jordanian), with 3 HMs and 2 miscarriages. The L535Q variant was previously reported in a homozygous state by Fakhro et al. in 2 infertile Qatari brothers with azoospermia (PMID: 29790874). In mice, both male and female null mutants of Kash5 are infertile (PMID: 24062341). \r\nSources: Literature; to: HGNC approved symbol- KASH5\r\n\r\nBiallelic variants reported for POI- PMID: 35587281; 35674372; 35708642; 36864840\r\n\r\nBiallelic variants reported for spermatogenic failure-PMID: 29790874; 35587281; 35674372; 36864840\r\n\r\nBiallelic variants reported for recurrent miscarriages- PMID:36864840- The authors hypothesized that this reduced interaction with SUN1 might be sufficient to allow folliculogenesis and fertilization despite severe meiotic defects, and suggested that in addition to POF, KASH5 might represent a recurrent pregnancy loss-associated gene. \r\n\r\nSources: Literature",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:57:13.558692+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: C17orf53: Changed publications: 34707299, 38105698, 36099812, 31467087",
"entity_name": "C17orf53",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:57:01.967039+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: C17orf53 was added\ngene: C17orf53 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf53 were set to 34707299, 38105698,36099812; 31467087\nPhenotypes for gene: C17orf53 were set to Ovarian dysgenesis 11, MIM# 620897\nReview for gene: C17orf53 was set to GREEN\nAdded comment: HGNC approved symbol- HROB\r\n\r\nBiallelic variants reported for POI- PMID: 34707299, 38105698,36099812\r\n\r\nPMID: 31467087- Knockout mice were infertile due to lack of germ cells. The sterile females had ovaries that lacked follicles, whereas the sterile males had mostly empty seminiferous tubules, suggesting a defect in sperm production. Concluded that these phenotypes were consistent with a prophase I meiotic arrest. \nSources: Literature",
"entity_name": "C17orf53",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:52:27.283791+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to 34794894; 29056561; 28846287\nPhenotypes for gene: BLM were set to Bloom syndrome, MIM# 210900\nReview for gene: BLM was set to GREEN\nAdded comment: PMID: 28846287 (Gene Review)- Women may be fertile but often have early menopause, and men tend to be infertile. Most men with BSyn assessed for infertility have had azoospermia or severe oligospermia.\r\n\r\nPMID: 35671666, PMID: 24858046- BLM physically interacts with MUS81, an endonuclease involved in the restart of stalled replication forks and HR repair. Loss of Mus81 in Blm hypomorph mutant mice leads to infertility, and growth and developmental defects that are not observed in single mutants. Double mutant cells and mice were hypersensitive to Mitomycin C and γ-irradiation (IR) compared with controls and their repair of DNA double-strand breaks (DSBs) mediated by HR pathway was significantly defective, whereas their non-homologous-end-joining repair was elevated compared with controls. \nSources: Literature",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:43:40.559143+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Hemizygous variants reported for HH- PMID:40508017; 40262549; 40258767; 40101754 \nSources: Literature; to: Hemizygous variants reported for HH- PMID:40508017; 40262549; 40258767; 40101754; 16882753\r\nSources: Literature",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:43:32.966316+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: ANOS1: Changed publications: 40508017, 40262549, 40258767, 40101754, 16882753",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:43:04.080199+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: ANOS1: Changed publications: 40508017, 40262549, 40258767, 40101754",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:42:28.865012+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ANOS1 was added\ngene: ANOS1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700\nReview for gene: ANOS1 was set to GREEN\nAdded comment: Hemizygous variants reported for HH- PMID:40508017; 40262549; 40258767; 40101754 \nSources: Literature",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:39:22.098889+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: WDR11: Changed publications: 20887964, 37988663, 36130823, 35722485, 32982993, 29263200",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:39:06.344575+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: WDR11 was added\ngene: WDR11 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR11 were set to 20887964, 37988663; 36130823; 35722485; 32982993; 29263200\nPhenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia, MIM# 614858\nReview for gene: WDR11 was set to GREEN\nAdded comment: Monoallelic variants reported for HH- PMID: 20887964, 37988663; 36130823; 35722485; 32982993\r\n\r\nPMID: 29263200- Disruption of WDR11 expression in mouse and zebrafish results in phenotypic characteristics associated with defective Hh signalling, accompanied by dysgenesis of ciliated tissues. \nSources: Literature",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:30:34.192794+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TWNK were set to 28178980; 26970254; 25355836; 25355836; 32281099; 31852434; 31455392\nPhenotypes for gene: TWNK were set to Perrault syndrome 5, MIM# 616138\nReview for gene: TWNK was set to GREEN\nAdded comment: Ovarian dysgenesis is one of the phenotypes of Perrault syndrome.\r\n\r\nFeRGI database- moderate evidence for POI (Perrault syndrome)- biallelic variants reported in multiple papers \nSources: Literature",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:27:43.343910+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TP63 were set to 30924587; 35801529; 36856110; 27798044\nPhenotypes for gene: TP63 were set to Premature ovarian failure 21, MIM# 620311\nReview for gene: TP63 was set to GREEN\nAdded comment: Monoallelic missense/LOF variants reported for POI- PMID: 30924587; 35801529;36856110 \r\n- PMID: 35801529;36856110- suggested that POF-related variants cause constitutive activation of the oocyte-specific TAp63-alpha isoform, increasing expression of downstream targets that can initiate the apoptotic pathway in oocytes.\r\n- PMID:36856110- Heterozygous mutant females were infertile, whereas mutant males were fertile. Eexpression of mutant p63 lacking the TID resulted in rapid depletion of oocytes and loss of fertility, similar to the human POF phenotype.\r\n\r\nPMID: 27798044- monoallelic variants for Mullerian duct anomalies \nSources: Literature",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:21:48.046048+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SYCP2L was added\ngene: SYCP2L was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYCP2L were set to 32303603; 38521400\nPhenotypes for gene: SYCP2L were set to Premature ovarian failure 24, MIM# 620840\nReview for gene: SYCP2L was set to GREEN\nAdded comment: Biallelic LOF/missense variants reported for POI- PMID:32303603; 38521400\r\n- Sycp2l-deficient female mice are subfertile (PMID: 26362258). The association of the genes that have key roles in meiosis and DNA repair with POI has been previously reported (PMID: 32381463;34707299). \nSources: Literature",
"entity_name": "SYCP2L",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:14:54.537889+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TACR3 was added\ngene: TACR3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TACR3 were set to 22031817; 20332248; 20194706; 20395662; 19755480; 28915117; 19079066\nPhenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840\nReview for gene: TACR3 was set to GREEN\nAdded comment: Biallelic variants reported for HH- PMID:22031817; 20332248; 20194706; 20395662; 19755480; 28915117; 19079066 \nSources: Literature",
"entity_name": "TACR3",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:12:43.834230+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TAC3 was added\ngene: TAC3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAC3 were set to 20332248; 20194706; 34403359; 19079066\nPhenotypes for gene: TAC3 were set to Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839\nReview for gene: TAC3 was set to GREEN\nAdded comment: Biallelic variants reported for HH- PMID:20332248; 20194706; 34403359; 19079066 \nSources: Literature",
"entity_name": "TAC3",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:10:05.959462+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA3A were set to 22416012; 22927827; 32060892; 31200363; 33819414\nPhenotypes for gene: SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897\nReview for gene: SEMA3A was set to GREEN\nAdded comment: Monoallelic variants reported for HH/infertility- PMID:22416012; 22927827; 32060892;31200363;33819414 \nSources: Literature",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2025-06-22T22:04:56.890232+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: RNF216 was added\ngene: RNF216 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 31200363; 25841028; 39444518; 38050071\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840\nReview for gene: RNF216 was set to GREEN\nAdded comment: Biallelic variants reported for HH phenotype-PMID:31200363;25841028;39444518\r\n\r\nPMID:38050071 (review paper, 2024)- Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. Male individuals seemed to be more vulnerable than female individuals. Most male individuals suffered from poor pubertal development. .This phenomenon was consistent with the results of previous animal experiments, whereby targeted deletion of the RNF216 gene in mice resulted in disruption in spermatogenesis and male infertility, but RNF216 was not required for female fertility. \nSources: Literature",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:56:27.236423+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PROK2 was added\ngene: PROK2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PROK2 were set to 23341491; 18559922; 17959774; 17054399; 31200363; 33819414\nPhenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628\nReview for gene: PROK2 was set to GREEN\nAdded comment: FeRGI database- strong evidence for hypogonadotropic hypogonadism- PMID:23341491;18559922; 17959774;17054399;31200363;33819414 - monoallelic and biallelic variants reported.\r\n\r\nPMID:17959774- Prok2 -/- mice also showed hypogonadotropic hypogonadism. \nSources: Literature",
"entity_name": "PROK2",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:51:16.569828+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Hypergonadotropic hypogonadism is one of the phenotypes of prolyl endopeptidase-like (PREPL) deficiency.\r\nBiallelic variants reported in patients with PREPL deficiency- PMID: 34794894;28726805;30924587;32218803 \nSources: Literature; to: Hypergonadotropic hypogonadism/POI is one of the phenotypes of prolyl endopeptidase-like (PREPL) deficiency. Biallelic variants reported in patients with PREPL deficiency- PMID: 34794894;28726805;30924587;32218803.\r\nSources: Literature",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:50:12.701387+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PREPL were set to 34794894; 28726805; 30924587; 32218803\nPhenotypes for gene: PREPL were set to Hypergonadotropic hypogonadism\nReview for gene: PREPL was set to GREEN\nAdded comment: Hypergonadotropic hypogonadism is one of the phenotypes of prolyl endopeptidase-like (PREPL) deficiency.\r\nBiallelic variants reported in patients with PREPL deficiency- PMID: 34794894;28726805;30924587;32218803 \nSources: Literature",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:45:02.640919+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POR were set to 32725309; 32242900\nPhenotypes for gene: POR were set to Disordered steroidogenesis due to cytochrome P450 oxidoreductase,\tMIM# 613571\nReview for gene: POR was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:32725309, 32242900- biallelic variants reported for menstrual cycle disorders and female infertility. Successful fertility induction is possible by IVF, providing that P levels be sufficiently suppressed by glucocorticoid therapy prior to implantation. \nSources: Literature",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:40:05.137424+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- moderate evidence for hypogonadotropic hypogonadism- biallelic variants reported \nSources: Literature; to: FeRGI database- moderate evidence for hypogonadotropic hypogonadism- biallelic variants reported.\r\n- PMID: 25339210 - delayed puberty or primary amenorrhea was present in 27/33 patients with POLR3A (81%).\r\nSources: Literature",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:39:43.390291+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: POLR3A: Changed publications: 23694757, 21855841, 30414627, 34611991, 25339210",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:37:20.438741+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to 23694757; 21855841; 30414627; 34611991\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694\nReview for gene: POLR3A was set to GREEN\nAdded comment: FeRGI database- moderate evidence for hypogonadotropic hypogonadism- biallelic variants reported \nSources: Literature",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:34:21.670449+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: PNPLA6: Changed rating: GREEN",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:34:17.955732+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 27866050; 24790214; 25267340; 25033069; 24355708; 33141049\nPhenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, MIM# 215470\nAdded comment: Hypogonadotropic hypogonadism is a feature of Boucher-Neuhauser syndrome, MIM# 215470.\r\n\r\nFeRGI database- Strong evidence for hypogonadotropic hypogonadism- multiple papers reported biallelic variants \nSources: Literature",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:29:28.427553+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n\r\nhttps://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. \r\nSources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis- PMID: 26485283; 34707299; 29363275 (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n\r\nhttps://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. \r\nSources: Literature",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:29:00.237517+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n\r\nhttps://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. \r\nSources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n\r\nhttps://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. \r\nSources: Literature",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:28:54.322210+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n \r\nhttps://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. \r\nSources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n\r\nhttps://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. \r\nSources: Literature",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:28:14.247366+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n \r\nhttps://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. \nSources: Literature; to: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n \r\nhttps://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. \r\nSources: Literature",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:28:01.154482+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NUP107 was added\ngene: NUP107 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP107 were set to 26485283; 34707299; 29363275\nPhenotypes for gene: NUP107 were set to Ovarian dysgenesis 6, MIM# 618078\nReview for gene: NUP107 was set to GREEN\nAdded comment: FeRGI database- moderate evidence for ovarian dysgenesis (biallelic variants reported for ovarian dysgenesis/premature ovarian insufficiency)\r\n \r\nhttps://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. \nSources: Literature",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2025-06-22T21:21:09.373275+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2 were set to 32312275; 30304577; 28505269; 28283672\nPhenotypes for gene: NOTCH2 were set to Primary ovarian insufficiency\nReview for gene: NOTCH2 was set to GREEN\nAdded comment: i) PMID: 32312275 -Heterozygous missense variant p.Asp1853His in both mother an daughter with POI. Cells expressing the D1853H NOTCH2 mutant had similar effect in activating the NOTCH signaling pathway downstream target genes. 106 protein-coding genes enriched for collagen degradation, NCAM1 interactions and HDACs deacetylate histones were differentially expressed between D1853H expressing cells and WT NOTCH2 expressing cells.\r\n\r\nii) PMID: 30304577, 28505269 - 4 unrelated women with POI with heterozygous missense variants (p.Ser1804Leu, p.Gln1811His, p.Leu2408His, p.Pro2359Ala) and 1 woman with POI suspected biallelic (p.Ala2316Val & p.Leu2408His). NOTCH2-p.Ser1804Leu, p.Ala2316Val, and p.Pro2359Ala mutations had a functional impact on the protein's transcriptional activity. Suggested that POI is associated with loss of function of NOTCH2. \nSources: Literature",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:29:03.255644+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Premature ovarian failure/infertility has been observed.\r\nSources: Literature; to: Premature ovarian failure/infertility has been observed in individuals with biallelic variants.\r\nSources: Literature",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:27:35.237040+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Premature ovarian failure/infertility has been observed. \r\nSources: Literature; to: Premature ovarian failure/infertility has been observed.\r\nSources: Literature",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:27:26.002350+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Premature ovarian failure has been observed. \nSources: Literature; to: Premature ovarian failure/infertility has been observed. \r\nSources: Literature",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:27:03.871373+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBN were set to 19105185; 29706645; 31729086; 34794894; 20444919\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM# 251260\nReview for gene: NBN was set to GREEN\nAdded comment: Premature ovarian failure has been observed. \nSources: Literature",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:23:58.295008+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: MRPS22 was added\ngene: MRPS22 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS22 were set to 29566152; 31042289\nPhenotypes for gene: MRPS22 were set to Ovarian dysgenesis 7, MIM# 618117\nReview for gene: MRPS22 was set to GREEN\nAdded comment: PMID:29566152, 31042289- Two homozygous missense variants (p.Arg202His and p.Arg135Gln) reported in independent families with POI. Mitochondrial defects in oxidative phosphorylation or rRNA levels were not detected in fibroblasts derived from the POI patients, Drosophila model with mRpS22 deficiency specifically in germ cells were infertile and agametic. Heterozygous MRPS22 knockout mice are fertile and show no overt abnormalities. Homozygous MRPS22 knockout results in embryonic lethality. \nSources: Literature",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:15:59.932515+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- definitive evidence for ovarian dysgenesis- PMID:25480036, 26771056, 31042289 (biallelic variants reported) \nSources: Literature; to: FeRGI database- definitive evidence for ovarian dysgenesis- PMID:27802094, 25480036, 26771056, 31042289, 32145932 (monoallelic and biallelic variants reported) \r\nSources: Literature",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:15:20.725605+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: MCM9: Changed publications: 27802094, 25480036, 26771056, 31042289, 32145932; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:13:48.607985+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: MCM9 was added\ngene: MCM9 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MCM9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM9 were set to 25480036; 26771056; 31042289\nPhenotypes for gene: MCM9 were set to Ovarian dysgenesis 4, MIM# 616185\nReview for gene: MCM9 was set to GREEN\nAdded comment: FeRGI database- definitive evidence for ovarian dysgenesis- PMID:25480036, 26771056, 31042289 (biallelic variants reported) \nSources: Literature",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:09:02.451192+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: LHX8 was added\ngene: LHX8 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX8 were set to 27603904; 34095689; 29329412; 36029299\nPhenotypes for gene: LHX8 were set to Inherited premature ovarian failure, MONDO:0019852, LHX8-related\nReview for gene: LHX8 was set to GREEN\nAdded comment: PMID:27603904; 34095689- reported POI patient with the same heterozygous missense p.Ala325Val variant.\r\n\r\nPMID: 29329412 - Lhx8 knockout mouse model demonstrates that Lhx8-/- ovaries maintain the same number of germ cells throughout embryonic development; rapid decrease in the pool of oocytes starts shortly before birth. Lhx8-/- oocytes failed to repair DNA damage-which normally occurs when meiosis is initiated during embryonic development and DNA damage repair genes were downregulated throughout the oocyte short lifespan. \r\n\r\nPMID: 36029299- 5 heterozygous loss-of-function LHX8 variants were identified from 6 independent families with infertility characterized by oocyte maturation arrest. All the identified variants in LHX8 produced truncated LHX8 protein and resulted in loss of LHX8 nuclear localization in both HeLa cells and mouse oocytes. \nSources: Literature",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2025-06-22T20:00:58.451248+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: KISS1R was added\ngene: KISS1R was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KISS1R were set to 23349759; 22619348; 21193544; 17164310; 14573733; 27094476; 33819414\nPhenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837\nReview for gene: KISS1R was set to GREEN\nAdded comment: FeRGI database- Definitive evidence for hypogonadotropic hypogonadism- multiple papers reported biallelic variants.\r\n- early miscarriages have been reported in couples with the male partner being a carrier of a KISS1R variant (PMID: 23349759) \nSources: Literature",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:53:07.245706+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Sources: Literature; to: PMID:32845237, 35174157- Three different homozygous missense variants (S167L, C128R, p.L186P) reported in three independent families. \r\n- HSF2BP-S167L variant in mouse showed that it behaves as a hypomorphic allele. Meiocytes bearing the HSF2BP-S167L variant showed a strongly decreased staining of both HSF2BP and BRME1 at the recombination nodules and a reduced number of the foci formed by the recombinases RAD51/DMC1, thus leading to a lower frequency of crossovers.\r\n- C128R and p.L186P variants impaired the nuclear location of HSF2BP and affected its DNA repair capacity. \r\nSources: Literature",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:50:04.871422+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: HSF2BP was added\ngene: HSF2BP was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSF2BP were set to 32845237; 35174157\nPhenotypes for gene: HSF2BP were set to Premature ovarian failure 19, OMIM#619245\nReview for gene: HSF2BP was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:44:45.471730+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: GGPS1 was added\ngene: GGPS1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32399598; 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MMIM#\t619518\nReview for gene: GGPS1 was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:32399598, 32403198- biallelic variants reported. Also in mice, PMID: 32403198 found that homozygosity for the Y259C missense variant was embryonic lethal. \nSources: Literature",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:41:17.232288+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- strong evidence for Hypogonadotropic hypogonadism- multiple literature reported monoallelic variants. \nSources: Literature; to: FeRGI database- strong evidence for Hypogonadotropic hypogonadism- multiple literature reported monoallelic missense/LOF variants. \r\nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:41:01.233970+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: FGFR1: Changed publications: 28008864, 26708526, 22035731, 21682876, 17154279, 16764984, 32485746; Changed phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia , MIM#147950",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:39:15.546825+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR1 were set to 28008864; 26708526; 17154279; 21682876; 16764984\nPhenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia\t, MIM#147950\nReview for gene: FGFR1 was set to GREEN\nAdded comment: FeRGI database- strong evidence for Hypogonadotropic hypogonadism- multiple literature reported monoallelic variants. \nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:10:43.467870+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCM were set to 33036707; 29231814; 30075111; 29895858; 38927643\nPhenotypes for gene: FANCM were set to Premature ovarian failure 15, MIM# 618096; Spermatogenic failure 28, MIM# 618086\nReview for gene: FANCM was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:33036707,29231814- biallelic variants reported\r\n\r\nEvidence for Spermatogenic failure 28, MIM# 618086 (AR)- PMID: 30075111, 29895858, 38927643- biallelic variants in males with NOA/SCOS phenotypes \nSources: Literature",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:00:38.146475+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ERCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERCC6 were set to 26218421; 33109206; 33538981; 39277148; 35975393\nPhenotypes for gene: ERCC6 were set to Premature ovarian failure 11, MIM# 616946\nReview for gene: ERCC6 was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:26218421, 33109206, 33538981 (heterozygous variants reported)\r\n\r\nNew papers: \r\ni) PMID: 39277148- Two different missense p.Val127Ile and p.Glu1408 Ala in 4 POI patients with RNA and protein expression absent/decreased in patients.\r\n\r\nii) PMID: 35975393- A novel het p.GLy815Asp in a POI patient and Swiss-Model revealed that the mutant amino acid formed multiple H-bonds with adjacent residues, which may lead to a dysfunction of ERCC6 protein. \nSources: Literature",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:58:01.783727+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI db- Strong for POI (Woodhouse-Sakati syndrome, MIM#241080)- biallelic variants reported in multiple literature with hypogonadism as one of the phenotypes- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \r\nSources: Literature; to: FeRGI db- Strong for POI (Woodhouse-Sakati syndrome, MIM#241080)- biallelic variants reported in multiple literature with hypogonadism as one of the phenotypes.\r\nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:57:52.021945+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI db-Strong for POI (Woodhouse-Sakati syndrome)- biallelic variants reported in multiple literature- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \nSources: Literature; to: FeRGI db- Strong for POI (Woodhouse-Sakati syndrome, MIM#241080)- biallelic variants reported in multiple literature with hypogonadism as one of the phenotypes- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \r\nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:56:15.152820+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 33819414; 27240811; 20507343; 34630532; 31347785; 34590781; 29574468\nPhenotypes for gene: DCAF17 were set to Hypergonadotropic/ Hypogonadotropic Hypogonadism\nReview for gene: DCAF17 was set to GREEN\nAdded comment: FeRGI db-Strong for POI (Woodhouse-Sakati syndrome)- biallelic variants reported in multiple literature- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:51:13.081145+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- Strong evidence for POI (Perrault syndrome 3- premature ovarian failure (POF) secondary to ovarian dysgenesis)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \r\nSources: Literature; to: FeRGI database- Strong evidence for POI (Perrault syndrome 3- POI secondary to ovarian dysgenesis)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \r\nSources: Literature",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:51:03.158458+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- Strong evidence for POI (Perrault syndrome 3)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \nSources: Literature; to: FeRGI database- Strong evidence for POI (Perrault syndrome 3- premature ovarian failure (POF) secondary to ovarian dysgenesis)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \r\nSources: Literature",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:50:33.801940+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPP were set to 27087618; 23541340; 32399598; 33538981\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129\nReview for gene: CLPP was set to GREEN\nAdded comment: FeRGI database- Strong evidence for POI (Perrault syndrome 3)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \nSources: Literature",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:47:19.103861+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: C14orf39 was added\ngene: C14orf39 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf39 were set to 33508233; 34718620; 27796301\nPhenotypes for gene: C14orf39 were set to Premature ovarian failure 18, MIM# 619203; Spermatogenic failure 52, MIM# 619202\nReview for gene: C14orf39 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:43:49.992117+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: BRCA2: Changed publications: 32482800, 30207912, 30865812",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:43:10.251334+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA2 were set to 32482800; 30207912\nPhenotypes for gene: BRCA2 were set to Premature ovarian failure\nReview for gene: BRCA2 was set to GREEN\nAdded comment: FeRGI database- limited evidence for POI/ovarian dysgenesis- PMID:32482800,30207912- biallelic variants reported \nSources: Literature",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:40:31.941431+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: BNC1: Changed publications: 32962729, 30010909, 39595984, 39462784",
"entity_name": "BNC1",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:40:18.299159+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- Moderate evidence for POI- PMID:32962729,30010909 (Reported monoallelic and biallelic variants) \nSources: Literature; to: FeRGI database- Moderate evidence for POI- PMID:32962729,30010909 (Reported monoallelic and biallelic variants) \r\n\r\nNew papers reported monoallelic variants in POI patients- PMID: 39595984, 39462784\r\n\r\nSources: Literature",
"entity_name": "BNC1",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:38:03.933412+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: BNC1 was added\ngene: BNC1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BNC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BNC1 were set to 32962729; 30010909\nPhenotypes for gene: BNC1 were set to Premature ovarian failure 16, MIM# 618723\nReview for gene: BNC1 was set to GREEN\nAdded comment: FeRGI database- Moderate evidence for POI- PMID:32962729,30010909 (Reported monoallelic and biallelic variants) \nSources: Literature",
"entity_name": "BNC1",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:35:25.463135+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ANKRD31 was added\ngene: ANKRD31 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD31 were set to 34794894; 34257419; 31003867\nPhenotypes for gene: ANKRD31 were set to Premature ovarian failure\nReview for gene: ANKRD31 was set to GREEN\nAdded comment: i) PMID: 34794894, PMID: 34257419- Three unrelated cases with premature ovarian failure and loss of function variants (het p.Q329∗ and c.1565-2A>G). Both mutations weakened the interaction between ANKRD31 and REC114 and were unable to further stabilise and regulate the binding of downstream DSB-forming proteins to chromatin. Mice with knocked out Ankrd31 have been reported to result in an increase in the number of DSBs and the enabling of the default DSB site, which also results in decremental efficiency of the regulation of DSB formation and may be responsible for the loss of synapsis and the delay in DSB repair (PMID: 31000436). \r\n\r\nii) PMID: 31003867- Unrepaired DSBs and pairing failures-stochastic on autosomes, nearly absolute on X and Y-cause meiotic arrest and sterility in males. Ankrd31-deficient females have reduced oocyte reserves. This gene plays a role in DNA double strand breaks formation. \nSources: Literature",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:32:38.719015+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: POLR3B was added\ngene: POLR3B was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3B were set to 25339210; 27512013; 26113998; 22036171; 22036172; 32319736; 26113998\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381\nReview for gene: POLR3B was set to GREEN\nAdded comment: Intolerome database- candidate gene for spontaneous miscarriage, FeRGI db- limited evidence for POI.\r\n\r\nMouse evidence-\r\ni) PMID: 31221184-Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Using proteomics in a human cell line, POLR3B R103H mutation severely impairs assembly of the Pol III complex. Their mouse model indicates that the Polr3b R103H variant is embryonically lethal at or before mid-gestation, similarly to Polr3a−/−null mice , which may lead to early developmental arrest. \nSources: Literature",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:29:17.360425+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 31902100; 25497157; 33583911\nPhenotypes for gene: PMM2 were set to Primary ovarian failure\nReview for gene: PMM2 was set to GREEN\nAdded comment: FeRGI db- moderate evidence for Congenital disorder of glycosylation (POI)- PMID:31902100, 25497157, 33583911(reported biallelic variants) \nSources: Literature",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:23:53.118561+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: HARS2: Changed publications: 31449985, 21464306, 34406847",
"entity_name": "HARS2",
"entity_type": "gene"
}
]
}