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"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=267",
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{
"created": "2025-04-20T09:51:50.105849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGF8 were set to 34433009",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:43:45.049042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGA were set to 31064749; 17295221; 19073821; 11739173",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:43:31.706231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2473",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:43:19.285666+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:42:07.645832+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGB were set to 12393540; 16195396; 24560896",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:41:55.893623+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGB were set to 12393540; 16195396",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:41:35.277655+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:41:11.880401+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24560896; Phenotypes: Congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:37:21.938970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2472",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGB were set to 12393540; 16195396",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:37:01.995882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2471",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:36:40.985122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2470",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24560896; Phenotypes: Congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:18:06.613779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2470",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10602365, 11460510; Phenotypes: Congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:17:43.190175+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGA: Changed rating: GREEN",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-19T13:16:58.201388+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: ; Mode of pathogenicity: None; Publications: 10602365, 11460510; Phenotypes: Congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2025-04-18T10:16:31.069543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2470",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33586168, 25439727; Phenotypes: Fatty acyl-CoA reductase 1 deficiency MONDO:0014510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:55:24.978919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2470",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FANCM: Added comment: Now 4 families with biallelic variants reported with spermatogenic failure; Changed publications: 29231814, 28837162, 33036707, 25010009, 38927643, 35413094, 30075111, 29895858; Changed phenotypes: Premature ovarian failure 15 MIM#618096, spermatogenic failure 28 MONDO:0054732; Set current diagnostic: yes",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:22:27.386496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2470",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FANCI were set to 17452773",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:19:50.623691+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Classified as LIMITED by the Hemostasis Thrombosis GCEP in 2023 with 2 families reported with missense variants, however 3 additional families/cases have been reported with increased factor 9 activity and large duplications involving F9. Gain of function is the mechanism of disease for the thrombophilia.; to: Classified as LIMITED by the Hemostasis Thrombosis GCEP in 2023 with 2 families reported with missense variants; however, 3 additional families/cases have been reported with increased factor 9 activity and large duplications involving F9. Gain of function is the mechanism of disease for thrombophilia.",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:19:30.762633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2469",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19846852, 32079698, 38886735, 38358900, 37414287, 33656538; Phenotypes: thrombophilia, X-linked, due to factor 9 defect MONDO:0010432; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:18:01.040250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2469",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: F9 were set to 19846852; 34015304; 33656538; 3001143; 9016521; 19815722",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:17:06.490493+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: F9: Changed mode of pathogenicity: Other",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-04-18T09:16:48.907442+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 32079698, 38886735, 38358900, 37414287, 33656538; Phenotypes: thrombophilia, X-linked, due to factor 9 defect MONDO:0010432; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-04-18T08:56:56.012965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2468",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: F9 were set to 19846852; 34015304; 33656538",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:32:56.284757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2467",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: F5 were set to ",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:27:45.687647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2466",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: F2 as Green List (high evidence)",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:27:45.683520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2466",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gain of function is the mechanism of disease for dominant thrombophilia, and biallelic loss of function is the mechanism for congenital prothrombin deficiency.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:27:45.653336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2466",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: f2 has been classified as Green List (High Evidence).",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:25:22.406206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2465",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag 5'UTR was removed from gene: F2.\nTag UTR tag was added to gene: F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:24:23.422743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2465",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: F2 were set to 30297698",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2025-04-17T18:04:34.522739+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ZFP36L2 was added\ngene: ZFP36L2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZFP36L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFP36L2 were set to 34611029; 38829516; 37211617\nPhenotypes for gene: ZFP36L2 were set to Oocyte/zygote/embryo maturation arrest 13, MIM# 620154\nReview for gene: ZFP36L2 was set to GREEN\nAdded comment: i) Literature in OMIM- PMID:34611029- x2 unrelated infertile Chinese women with defective oocyte maturation carrying different biallelic variants and functional analysis suggested that the variants cause maternal mRNA decay defects that result in female infertility.\r\n\r\nii) New papers reporting biallelic variants in conjunction with female infertility due to oocyte maturation defect+/- embryonic development arrest\r\n- PMID: 38829516: Novel compound heterozygous variant (p.His62Gln and p.Pro290Leu) in a patient with oocyte maturation defect. These variants lead to compromised binding capacity of the ZFP36L2-CONT6L complex and impaired mRNA degradation in HeLa cells and mouse oocytes. \r\n- PMID: 37211617: Novel homozygous variant c.853_861del (p.285_287del) in the affected individual with oocyte maturation defect from a consanguineous family. In vitro studies showed that the variant caused decreased protein levels of ZFP36L2 in oocytes due to mRNA instability and might lead to the loss of its function to degrade maternal mRNAs \nSources: Literature",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:53:54.242736+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: REC114 was added\ngene: REC114 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REC114 were set to 31704776; 30388401; 38148155\nPhenotypes for gene: REC114 were set to Oocyte/zygote/embryo maturation arrest 10, #MIM 619176\nReview for gene: REC114 was set to GREEN\nAdded comment: i) Literature in OMIM (PMID: 31704776;30388401)- x3 unrelated females with different biallelic variants presented with infertility due to oocyte maturation defects/multiple pronuclei zygotes, early embryonic arrest, and failed implantation of surviving embryos/miscarriages/recurrent hydatidiform moles.\r\n\r\nii) New paper on male infertility:\r\n- PMID: 38148155- First report that identifies REC114 as the causative gene for male infertility- homozygous p.Gln190* variant in a Chinese NOA patient. Co-immunoprecipitation (Co-IP) and Western blot (WB) revealed that the variant resulted in truncated REC114 protein and impaired interaction with MEI4, which was essential for meiotic DNA double-strand break (DSB) formation. \nSources: Literature",
"entity_name": "REC114",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:48:28.738017+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: WEE2 was added\ngene: WEE2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: WEE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WEE2 were set to 29606300; 30628060; 39476306; 37772619; 36568932; 34476630\nPhenotypes for gene: WEE2 were set to Oocyte/zygote/embryo maturation arrest 5, MIM# 617996\nReview for gene: WEE2 was set to GREEN\nAdded comment: i) Literature in OMIM- PMID: 29606300;30628060- >3 unrelated infertile women (e.g., oocyte maturation defect, recurrent fertilization failure) with different biallelic variants\r\n\r\nii) Many other new papers reporting biallelic variants in conjunction with oocyte degradation +/- unexplained fertilization failure - PMID: 39476306;37772619;36568932;34476630\r\n\r\niii) definitive evidence for OZEMA in FeRGI database \nSources: Literature",
"entity_name": "WEE2",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:33:41.574631+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) Literature in OMIM (PMID:26537248)- 3 women from 2 consanguineous Saudi families with primary infertility due to preimplantation embryonic lethality carrying homozygous missense variant, S510Y. ). Functional analysis demonstrated that the variant abrogates TLE6 phosphorylation by PKA and also impairs TLE6 binding to components of the SCMC.\r\n\r\nii) New papers:\r\n- PMID: 31897846- novel biallelic variants (2 homozygous, 1 compound heterozygous) in 3 patients with recurrent IVF/ICSI failure.\r\n- PMID: 40225929- novel compound heterozygous (c.541+2dupT in intron 7 and c.1075G>A) in a female with embryonic developmental arrest (EDA). The splice variant resulted in aberrant RNA splicing, leading to abnormal truncations of the corresponding proteins. In vitro experiments further validated that the missense variant in NLRP5 led to increased mRNA and protein expression levels compared to wild type, when transfected into HEK293T cells.\r\n- PMID: 32172300- A homozygous truncating variant p.(Lys146Glufs*51) in a patient with recurrent pregnancy loss, and demonstrates that oocytes depleted for TLE6 have the capacity to undergo several postfertilization divisions prior to arrest, consistent with what was observed in Tle6-/- mice (Yu et al. 2014)\r\n\r\niii) Classified as definitive for OZEMA in FeRGI database \nSources: Literature; to: i) Literature in OMIM (PMID:26537248)- 3 women from 2 consanguineous Saudi families with primary infertility due to preimplantation embryonic lethality carrying homozygous missense variant, S510Y). Functional analysis demonstrated that the variant abrogates TLE6 phosphorylation by PKA and also impairs TLE6 binding to components of the SCMC.\r\n\r\nii) New papers:\r\n- PMID: 31897846- novel biallelic variants (2 homozygous, 1 compound heterozygous) in 3 patients with recurrent IVF/ICSI failure.\r\n- PMID: 40225929- novel compound heterozygous (c.541+2dupT in intron 7 and c.1075G>A) in a female with embryonic developmental arrest (EDA). The splice variant resulted in aberrant RNA splicing, leading to abnormal truncations of the corresponding proteins. In vitro experiments further validated that the missense variant in NLRP5 led to increased mRNA and protein expression levels compared to wild type, when transfected into HEK293T cells.\r\n- PMID: 32172300- A homozygous truncating variant p.(Lys146Glufs*51) in a patient with recurrent pregnancy loss, and demonstrates that oocytes depleted for TLE6 have the capacity to undergo several postfertilization divisions prior to arrest, consistent with what was observed in Tle6-/- mice (Yu et al. 2014).\r\n\r\niii) Classified as definitive for OZEMA in FeRGI database \r\nSources: Literature",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:33:04.505418+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TLE6 was added\ngene: TLE6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TLE6 were set to 26537248; 31897846; 40225929; 32172300\nPhenotypes for gene: TLE6 were set to Oocyte/zygote/embryo maturation arrest 15, #MIM 616814\nReview for gene: TLE6 was set to GREEN\nAdded comment: i) Literature in OMIM (PMID:26537248)- 3 women from 2 consanguineous Saudi families with primary infertility due to preimplantation embryonic lethality carrying homozygous missense variant, S510Y. ). Functional analysis demonstrated that the variant abrogates TLE6 phosphorylation by PKA and also impairs TLE6 binding to components of the SCMC.\r\n\r\nii) New papers:\r\n- PMID: 31897846- novel biallelic variants (2 homozygous, 1 compound heterozygous) in 3 patients with recurrent IVF/ICSI failure.\r\n- PMID: 40225929- novel compound heterozygous (c.541+2dupT in intron 7 and c.1075G>A) in a female with embryonic developmental arrest (EDA). The splice variant resulted in aberrant RNA splicing, leading to abnormal truncations of the corresponding proteins. In vitro experiments further validated that the missense variant in NLRP5 led to increased mRNA and protein expression levels compared to wild type, when transfected into HEK293T cells.\r\n- PMID: 32172300- A homozygous truncating variant p.(Lys146Glufs*51) in a patient with recurrent pregnancy loss, and demonstrates that oocytes depleted for TLE6 have the capacity to undergo several postfertilization divisions prior to arrest, consistent with what was observed in Tle6-/- mice (Yu et al. 2014)\r\n\r\niii) Classified as definitive for OZEMA in FeRGI database \nSources: Literature",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:25:51.879129+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PABPC1L was added\ngene: PABPC1L was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PABPC1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PABPC1L were set to 37052235; 37723834; 38177974; 32172300\nPhenotypes for gene: PABPC1L were set to Oocyte/zygote/embryo maturation arrest 22, #MIM 621093\nReview for gene: PABPC1L was set to GREEN\nAdded comment: i) Literature in OMIM (PMID: 37052235;37723834;38177974)- >3 unrelated infertile women (due to a mixed phenotype including oocyte maturation abnormalities, fertilization failure, and embryonic development arrest) with different biallelic variants\r\n\r\nii) Additional paper (PMID: 32172300)- Homozygous likely deleterious variant in PABPC1L p.(Met26Lys) in a woman whose infertility phenotype resembles that of Pabpc1lā/ā mouse. During her IVF cycles, 18 oocytes were retrieved and subjected to IVF and ICSI. Nine oocytes were assigned to ICSI, but eight were at germinal vesicle stage and only one showed polar body and failed to fertilize following ICSI. Similarly, nine oocytes were assigned to IVF, and only two showed polar body on the next day without any sign of fertilization. The remaining oocytes were at germinal vesicle stage. \nSources: Literature",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:19:26.909977+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NLRP7 was added\ngene: NLRP7 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NLRP7 were set to 17579354; 19650864; 25097207; 23201303; 23722513; 32172300; 37148315\nPhenotypes for gene: NLRP7 were set to Recurrent hydatidiform mole 1, # MIM 231090\nReview for gene: NLRP7 was set to GREEN\nAdded comment: i) The association between diploid biparental hydatidiform mole (HM), miscarriages, and infertility has been observed in many patients with biallelic functional variants in NLRP7 and some of their HM were diagnosed by morphology as non-molar miscarriages, partial HM (because of their mild trophoblastic proliferation), non-classical HM [PMID: 23201303], or not easy to classify HM [PMID: 23722513].\r\nii) classified as strong evidence for HM on the FeRGI database\r\niii) New paper- PMID: 32172300- homozygous truncating variant p.(Lys619Asnfs*18) in an individual with recurrent molar pregnancy and no pregnancy observed following three intra-uterine insemination attempts.\r\niv) New phenotype (AD): \r\n- PMID: 37148315- five heterozygous variants (c.251G > A, c.1258G > A, c.1441G > A, c. 2227G > A, c.2323C > T) of NLRP7 were identified in five infertile patients who experienced early embryo arrest. Injecting complementary RNAs in mouse oocytes and early embryos showed that NLRP7 variants influenced the oocyte quality and some of the variants significantly affected early embryo development. \nSources: Literature",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2025-04-17T17:11:22.332578+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH11 were set to 39256880; 32172300\nPhenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, # MIM 611884\nAdded comment: i) PMID: 39256880- Four unrelated asthenoteratozoospermia Chinese males with biallelic deleterious variants in the DNAH11 gene, and 7 of those variants are novel. These variants led the absence of DNAH11 proteins and ultrastructure defects in sperm flagella, particularly affecting the outer dynein arms (ODAs) and adjacent structures. The levels of ODA protein DNAI2 and axoneme related proteins were down regulated.\r\n\r\nii) PMID: 32172300- One infertile woman with a homozygous truncating variant, p.(Arg3229Trp), presented with primary infertility only. She had three cycles of IVF and had one clinical pregnancy that, unfortunately, ended in a spontaneous loss during first trimester. \nSources: Literature",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2025-04-16T20:47:01.028195+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Cystic Kidney Disease, MONDO# 0002473 to {Polycystic kidney disease 9, susceptibility to} MIM#621164",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-16T20:46:38.622104+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Polycystic kidney disease 9, susceptibility to} MIM#621164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-16T20:46:20.682923+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; {Polycystic kidney disease 9, susceptibility to} MIM#621164",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-16T20:45:44.345667+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT140: Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964, {Polycystic kidney disease 9, susceptibility to} MIM#621164",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-16T20:45:08.969732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-16T20:44:45.352274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT140: Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781, {Polycystic kidney disease 9, susceptibility to} MIM#621164",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-16T16:42:22.867338+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961, 33417887; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-04-16T13:58:37.684788+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3,MIM#610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2025-04-16T13:36:44.865050+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2025-04-16T13:03:02.030131+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 33528536, 38693247, 36322149; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2025-04-16T10:24:29.373031+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21031596, 7719337, 26220973, 20301621; Phenotypes: Peroxisome Biogenesis Disorder, MONDO:0019234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2025-04-16T08:17:23.761525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10769282, 30155266, 33745059; Phenotypes: dilated cardiomyopathy 1J MONDO:0011541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2025-04-15T22:49:56.766696+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867, 11788826, 40033371; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2025-04-15T22:42:30.076647+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21 MIM#615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2025-04-15T22:24:21.715967+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 16688749, 29427788, 24211389, 38058757, 39310870; Phenotypes: Split-hand/foot malformation 6 MIM#225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2025-04-15T22:05:55.933491+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004, 30755616; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2025-04-15T22:03:48.270349+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 7719340; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2025-04-15T22:00:52.292497+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32061250, 23956177, 31737043; Phenotypes: Intellectual developmental disorder, autosomal recessive 39 MIM#615541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:56:26.205114+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35903165, 18818955; Phenotypes: Hypomagnesemia 1, intestinal MIM#602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:53:30.077001+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: None; Publications: 9634523, 10399877, 17994549, 25351777, 19492423, 19303295, 31309175; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:40:49.050824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERLIN2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:40:09.105103+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8 MIM#601186, Microphthalmia, syndromic 9 MIM#601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:37:05.172951+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERLIN2 as ready",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:37:05.165688+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlin2 has been classified as Green List (High Evidence).",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:36:59.922310+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 26131547, 33903016, 31777525, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:36:31.624102+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERLIN2 as Green List (high evidence)",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:36:31.617969+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erlin2 has been classified as Green List (High Evidence).",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:35:35.971057+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERLIN2 was added\ngene: ERLIN2 was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ERLIN2 were set to 38607533; 38427163; 34734492; 32042907\nPhenotypes for gene: ERLIN2 were set to hereditary spastic paraplegia 18 MONDO:0012639\nReview for gene: ERLIN2 was set to GREEN\ngene: ERLIN2 was marked as current diagnostic\nAdded comment: HSP phenoconversion to ALS has been reported in AD and AR families. \nSources: Literature",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:30:35.118296+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 16648851, 23448538, 22621957, 32395362; Phenotypes: Hepatic venoocclusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:24:11.164905+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207, 9675154, 9758626; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240, Glycogen Storage Disease I MONDO:0002413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:11:43.130023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2462",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ERLIN2: Added comment: AR and AD variants appear to have a different mechanism of disease. AR is presumably loss of function. The mechanism of disease for AD HSP is expected to be dominant negative but has not been confirmed; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:11:20.840534+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34 MIM#616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2025-04-15T21:07:34.931586+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418, 26522472, 27471141, 37373084; Phenotypes: Dyserythropoietic anemia, congenital, type II MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2025-04-15T20:58:10.353768+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2025-04-15T20:53:49.432946+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335, 20301648, 29239743, 16845400, 24183309, 35551623; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333, RNASEH2A-related type 1 interferonopathy MONDO:0700259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2025-04-15T20:38:10.082635+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12 MIM#615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2025-04-15T20:24:45.254875+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome MIM#201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2025-04-15T20:13:20.342644+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526862, 30778726, 31583274, 35144859; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MIM#618342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2025-04-15T20:00:02.113698+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX MIM#259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2025-04-15T19:46:29.555411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2462",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: SIRT6 was added\ngene: SIRT6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIRT6 were set to 29555651; 30135584\nReview for gene: SIRT6 was set to GREEN\nAdded comment: PMID:29555651 reported a family with four consecutive cases of late foetal loss with gestational ages between 17 and 35 weeks. The foetuses showed prenatal abnormalities including intrauterine growth restriction (IUGR), microcephaly, craniofacial anomalies, sex reversal in male foetuses, and congenital heart defects. A homozygous inactivating variant in SIRT6 gene (c.187G > C; p.(Asp63His)) was identified by WES in the four foetuses. There is also functional data available from in vitro studies, SIRT6 D63H mouse embryonic stem cells and human induced pluripotent stem cells (iPSCs) derived from D63H homozygous foetuses.\r\n\r\nThere is also functional evidence available from several other studies including PMID:30135584, where CRISPR-Cas9-based approach was used to generate a SIRT6-null cynomolgus monkey (Macaca fascicularis) model. SIRT6-deficient monkeys died hours after birth and exhibited severe prenatal developmental retardation.\r\n\r\nThis gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-04-15T17:03:53.027716+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25012220; Phenotypes: Behr syndrome, 210000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:55:39.796256+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260, 31392110, 19184109; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency,MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:43:54.569782+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression.; to: Well established gene-disease association. Severe, multi system, mitochondrial condition with variable severity and progression.",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:43:35.693902+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression. Onset in infancy or childhood.; to: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression.",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:42:40.038869+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:16:29.333665+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:15:14.418289+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:06:09.363956+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825, 23562752; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2025-04-15T16:01:57.960743+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2025-04-15T15:52:16.188106+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2025-04-15T15:49:27.667559+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: Unsure if severe enough to include in panel.\r\n\r\nMM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.\r\n\r\nPMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue\r\nparenteral feeding.\r\n\r\nPMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support\r\nthat may be tapered off as the child ages.; to: Unsure if severe enough to include in panel.\r\n\r\nMM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.\r\n\r\nPMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue\r\nparenteral feeding.\r\n\r\nPMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support\r\nthat may be tapered off as the child ages.",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2025-04-15T15:43:02.027433+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988, 21529751, 34562061; Phenotypes: Lissencephaly 4 (with microcephaly), 614019 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-04-15T15:35:03.466445+10:00",
"panel_name": "Adult Cardiac SuperPanel",
"panel_id": 4059,
"panel_version": "2.9",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Dilated Cardiomyopathy; Short QT syndrome; Atrial Fibrillation; Cardiac conduction disease; Hypertrophic cardiomyopathy_HCM; Arrhythmogenic Cardiomyopathy; Long QT Syndrome; Catecholaminergic Polymorphic Ventricular Tachycardia; Brugada syndrome; Ventricular Fibrillation",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-04-15T15:07:45.848999+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2025-04-14T20:41:11.320372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2462",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: 40210679; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-04-14T17:39:23.850993+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PCSK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2025-04-14T16:48:06.440051+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 3008810, 31636599, 32141105; Phenotypes: Phenylketonuria,MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2025-04-14T16:03:47.519514+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2025-04-14T15:51:38.368896+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: 25168334, 32860923, 8213841; Phenotypes: Blue cone monochromacy,MIM#303700, Colorblindness, protan,MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2025-04-14T11:14:20.192602+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166, 32174975, 30006928, 27312080; Phenotypes: MED12-related intellectual disability syndrome, MONDO:0100000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2025-04-14T11:02:02.802447+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 39626953, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2025-04-14T10:30:41.409038+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: The FHL1 gene is associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle (PMID: 21310615, 40017287).\r\n\r\nWell-established gene-disease association. FHL1 encodes 3 alternatively spliced isoforms - FHL1A, FHL1B, FHL1C composed of different LIM domains. FHL1A is predominant in muscle. Pathogenic variants affected isoform expression differently depending on location in alternatively spliced exons. Location of the variant appears to be related to severity of phenotype. Loss of function is the mechanism of disease.\r\n\r\nReducing body myopathy (RBM) PMID: 18179901, 19716112, 18274675, 19181672, 25274776, 34366191 - XLD inheritance with clinical spectrum that includes severe early-onset to later-onset less progressive conditions including X-linked scapuloperoneal muscular dystrophy & X-linked myopathy with postural muscle atrophy. Pathogenic variants mainly located in more proximal exons (3-6). Fhl1 W122S knock-in mouse model has late-onset mild myopathy.\r\n\r\nXL-EDMD PMID: 19716112, 20186852, 20301609 - at least 7 families reported with XLD inheritance (female heterozygous carriers were asymptomatic or had mild myopathy and/or cardiomyopathy). EDMD-associated variants are localized in the distal exons (5-8) and associated with reduced function.; to: The FHL1 gene is associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle (PMID: 21310615, 40017287).\r\n\r\nWell-established gene-disease association. FHL1 encodes 3 alternatively spliced isoforms - FHL1A, FHL1B, FHL1C composed of different LIM domains. FHL1A is predominant in muscle. Pathogenic variants affected isoform expression differently depending on location in alternatively spliced exons. Location of the variant appears to be related to severity of phenotype. Loss of function is the mechanism of disease.\r\n\r\nReducing body myopathy (RBM) PMID: 18179901, 19716112, 18274675, 19181672, 25274776, 34366191 - XLD inheritance with clinical spectrum that includes severe early-onset to later-onset less progressive conditions including X-linked scapuloperoneal muscular dystrophy & X-linked myopathy with postural muscle atrophy. Pathogenic variants mainly located in more proximal exons (3-6). Fhl1 W122S knock-in mouse model has late-onset mild myopathy. Female carriers may experience mild proximal muscle weakness or be asymptomatic.\r\n\r\nXL-EDMD PMID: 19716112, 20186852, 20301609 - at least 7 families reported with XLD inheritance (female heterozygous carriers were asymptomatic or had mild myopathy and/or cardiomyopathy). EDMD-associated variants are localized in the distal exons (5-8) and associated with reduced function.",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2025-04-14T10:23:01.055312+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1868",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672, 21310615, 40017287; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FHL1",
"entity_type": "gene"
}
]
}