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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=275",
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"results": [
{
"created": "2025-04-04T11:59:33.105813+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC20 as Green List (high evidence)",
"entity_name": "CDC20",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:59:33.099933+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc20 has been classified as Green List (High Evidence).",
"entity_name": "CDC20",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:58:54.695376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCNB3 as ready",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:58:54.689244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnb3 has been classified as Green List (High Evidence).",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:58:48.530978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCNB3 as Green List (high evidence)",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:58:48.525320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnb3 has been classified as Green List (High Evidence).",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:58:34.793661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCNB3 was added\ngene: CCNB3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CCNB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCNB3 were set to 35722368; 32938693; 34021051; 30770433; 34850816\nPhenotypes for gene: CCNB3 were set to Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CCNB3-related\nReview for gene: CCNB3 was set to GREEN\nAdded comment: i) PMID: 35722368- homozygous missense variant (p.P119Q) in the female of unexplained recurrent pregnancy loss (RPL) couple (couple 29)\r\nii) PMID: 32938693- homozygous missense variant (p.V1251D) in two sisters with RPL and two of their POCs were characterised and found to be triploid digynic due to the failure of meiosis II.\r\niii) PMID: 34021051- novel homozygous frameshift variant (p.Val1321Glyfs*4, due to splicing causing exon skipping) in a patient with 16 RPL and one of her miscarriages is triploid digynic resulted from the failure of meiosis I.\r\n\r\nSupporting mouse evidence:\r\niv) PMID: 30770433- Ccnb3 knockout also causes female infertility due to the failure of metaphase to anaphase transition in meiosis I and the extrusion of the first polar body. The infertility in these mice appeared to be due to embryonic lethality before embryonic day 7.5 and some of their oocytes fertilised by intracytoplasmic sperm injection led to triploid embryos.\r\nv) PMID: 34850816- Ccnb3-deficient mouse model is similar to a human infertility condition—recurrent pregnancy loss (RPL). Their findings demonstrate that the triploidy of embryos derived from Ccnb3-deficient oocytes is the primary cause of embryo death (i.e., such embryos can be rescued with euploid nuclei, whereas cytoplasmic Ccnb3 transcript is dispensable for zygotic genome activation and embryo development). \nSources: Expert Review",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:56:50.722538+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCNB3 as ready",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:56:50.716201+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnb3 has been classified as Green List (High Evidence).",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:56:48.552520+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCNB3 were changed from to Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CCNB3-related",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:56:36.599411+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCNB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CCNB3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:55:21.495443+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCNB3 as Green List (high evidence)",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:55:21.488688+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnb3 has been classified as Green List (High Evidence).",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:54:55.865065+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMRT1 as ready",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:54:55.859166+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmrt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:54:53.104642+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT1 were changed from to Azoospermia, MONDO:0100459, DMRT1-related",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:54:44.203986+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMRT1 as Amber List (moderate evidence)",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:54:44.196696+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmrt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:54:02.666561+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: DMRT1: Rare variants enriched in azoospermia cohorts. However, variants are missense, pathogenicity more difficult to determine in the absence of segregation or other data.",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:53:06.566550+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Azoospermia, MONDO:0100459, DMRT1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:50:23.276225+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:50:23.266781+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:50:20.246240+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) to Cranioectodermal dysplasia 2 MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:50:07.204637+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR35 were set to ",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:49:37.743139+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WISP3 as ready",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:49:37.736427+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wisp3 has been classified as Green List (High Evidence).",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:49:35.120674+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WISP3 were changed from Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) to Progressive pseudorheumatoid dysplasia MIM#208230",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:49:24.906835+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WISP3 were set to ",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2025-04-04T11:49:14.988573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: WISP3.",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:57:37.699242+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:54:11.614133+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: PCCA: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:53:56.306945+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: PCCA: Rating: ; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia, MIM#606054; Mode of inheritance: None",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:51:12.433800+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: OSTM1: Rating: ; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:48:24.801517+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.5",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:45:43.817887+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:42:48.748276+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36047296, 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35 MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:26:36.986874+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26610319; Phenotypes: Progressive pseudorheumatoid dysplasia MIM#208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2025-04-04T10:16:53.347483+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2 MIM#613610, Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:49:30.119673+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DMRT1 was added\ngene: DMRT1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DMRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DMRT1 were set to 26139570; 38511217; 39777458\nReview for gene: DMRT1 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 26139570\r\n\r\nNew papers:\r\ni) PMID: 38511217- heterozygous missense variant (K68N) in a Japanese man (case 13) with non-obstructive azoospermia (NOA) \r\n\r\nii)PMID: 39777458- heterozygous missense variant (p.Pro74Leu) in two infertile Croatian brothers with NOA in the highly conserved position within the DNA binding DM domain of the protein, and EMSA assay showed reduced DNA binding of DMRT1P74L and molecular dynamic simulations showed differences in structural and dynamical properties between the wild type protein and DMRT1P74L. Also identified additional nine infertile men with idiopathic NOA or severe oligozoospermia as carriers of missense variants (see Table 2) located in critical functional domains of DMRT1. \r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated) \nSources: Literature",
"entity_name": "DMRT1",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:35:01.928822+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DPY19L2 was added\ngene: DPY19L2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DPY19L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPY19L2 were set to 15533374; 21397064; 21397064; 26516168; 30333325; 39045326\nPhenotypes for gene: DPY19L2 were set to Spermatogenic failure 9, MIM# 613958\nReview for gene: DPY19L2 was set to GREEN\nAdded comment: Literature from OMIM- PMID:15533374, 21397064, 21397064 \r\n\r\nNew papers:\r\ni) PMID: 26516168- In a cohort of Tunisian globozoospermic patients, 11 had homozygous DPY19L2 deletion, 2 had homozygous missense variant p.R298, and a patient with a novel homozygous splice site variant.\r\n\r\nii) PMID: 30333325- In a cohort of Chinese globozoospermic patients, 5 had DPY19L2 deletions and the other four patients carried novel DPY19L2 point variants.\r\n\r\niii) PMID: 39045326- homozygous variants (Arg 574Ter and Pro241Leu) in two patients with globozoospermia \nSources: Literature",
"entity_name": "DPY19L2",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:15:30.544837+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FKBP6 was added\ngene: FKBP6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKBP6 were set to 36150389\nPhenotypes for gene: FKBP6 were set to Spermatogenic failure 77, MIM# 620103\nReview for gene: FKBP6 was set to GREEN\nAdded comment: i) PMID: 36150389- compound heterozygous/ homozygous LOF variants in 6 unrelated infertile men (Dutch/German/Brazilian/Kyrgyz) with spermatogenic failure. Analysis of testicular histology was consistent with onset of germ cell loss in late meiosis and early spermiogenesis. Lack of FKBP6 expression in the testis was confirmed by RT-qPCR and immunofluorescence staining. \nSources: Literature",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:09:02.174591+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PubMed: 31985809 (2020)- homozygous 1bp deletion causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia.\r\n\r\nii) PubMed: 33108537 (2021)- homozygous 22bp deletion in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated.\r\n\r\niii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. \r\nSources: Literature; to: i) PubMed: 31985809 (2020)- homozygous 1bp deletion causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia.\r\n\r\nii) PubMed: 33108537 (2021)- homozygous 22bp deletion in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated.\r\n\r\niii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. \r\nSources: Literature",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:09:01.747390+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PubMed: 31985809 (2020)- hom 1bp del causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia.\r\n\r\nii) PubMed: 33108537 (2021)- hom 22bp del in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated.\r\n\r\niii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. \nSources: Literature; to: i) PubMed: 31985809 (2020)- homozygous 1bp deletion causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia.\r\n\r\nii) PubMed: 33108537 (2021)- homozygous 22bp deletion in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated.\r\n\r\niii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. \r\nSources: Literature",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:08:20.784345+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: GGN was added\ngene: GGN was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GGN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GGN were set to Spermatogenic failure 69, MIM# 619826\nMode of pathogenicity for gene: GGN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: GGN was set to GREEN\nAdded comment: i) PubMed: 31985809 (2020)- hom 1bp del causing a frameshift predicted to result in a premature termination codon (Gly424AlafsTer65) in 2 Turkish brothers with infertility due to globozoospermia.\r\n\r\nii) PubMed: 33108537 (2021)- hom 22bp del in an infertile man with globozoospermia causing a frameshift predicted to result in a premature termination codon (Leu139ArgfsTer8). The 146-amino acid mutant protein would lack the GGNBP2 (612275) and OAZ3 (605138) interaction domain, and the GGNBP1 (609495) interaction domain would be partially truncated.\r\n\r\niii) PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos. \nSources: Literature",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-04-03T19:00:06.582292+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NLRP5 was added\ngene: NLRP5 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NLRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLRP5 were set to 30877238; 32222962; 35091966; 35946397; 33583041\nPhenotypes for gene: NLRP5 were set to Oocyte/zygote/embryo maturation arrest 19, MIM# 620333\nReview for gene: NLRP5 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 30877238, 32222962, 35091966, 35946397\r\n\r\nNew evidence:\r\ni) PMID: 33583041- homozygous missense variant (p.Asp365Asn) in an Iranian woman with 2 years of infertility, IUI-twin (HM + fetus), and two complete hydatidiform mole \nSources: Literature",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:47:02.519544+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 29581481- a homozygous missense variant (M227V) in 3 infertile brothers from a consanguineous Algerian family with male infertility (owing to azoospermia, sperm immotility or necrospermia)\r\n\r\nii) PubMed: 35172124- previously reported homozygous missense variant (M227V) in 2 unrelated infertile Tunisian men with NOA \nSources: Literature; to: i) PMID: 29581481- a homozygous missense variant (M227V) in 3 infertile brothers from a consanguineous Algerian family with male infertility (owing to azoospermia, sperm immotility or necrospermia)\r\n\r\nii) PMID: 35172124- previously reported homozygous missense variant (M227V) in 2 unrelated infertile Tunisian men with NOA \r\nSources: Literature",
"entity_name": "PDHA2",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:46:28.077684+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PDHA2 was added\ngene: PDHA2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PDHA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHA2 were set to 29581481; 35172124\nPhenotypes for gene: PDHA2 were set to Spermatogenic failure 70, MIM# 619828\nReview for gene: PDHA2 was set to GREEN\nAdded comment: i) PMID: 29581481- a homozygous missense variant (M227V) in 3 infertile brothers from a consanguineous Algerian family with male infertility (owing to azoospermia, sperm immotility or necrospermia)\r\n\r\nii) PubMed: 35172124- previously reported homozygous missense variant (M227V) in 2 unrelated infertile Tunisian men with NOA \nSources: Literature",
"entity_name": "PDHA2",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:39:51.356473+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "reviewed gene: SYCP3: Rating: ; Mode of pathogenicity: None; Publications: 14643120, 19110213; Phenotypes: Spermatogenic failure 4, MIM# 270960, Recurrent pregnancy loss 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:39:20.513692+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:39:14.728671+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "reviewed gene: SYCP3: Rating: ; Mode of pathogenicity: None; Publications: 14643120, 19110213; Phenotypes: Spermatogenic failure 4, MIM# 270960, Recurrent pregnancy loss 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:35:42.651017+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 39222519 (2024)- a compound heterozygous variant (intragenic deletion of exon 1-5 and missense variant p.Glu77Lys) in a family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism. The Glu77Lys mutant showed no cAMP activity and hence failed to signal in response to INSL3, confirming a loss-of-function mechanism.\r\n\r\nii) PMID: 37208861 (2023)- Homozygous LOF (p.Phe469Serfs*8) and missense (p.Asn339Asp) variants in two unrelated infertile man with impaired spermatogenesis. The missense variant primarily impacts cell surface expression of the protein which directly correlates with reduced INSL3 activation (following protein expression studies). \r\n\r\niii) PMID: 38430325 - a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in a case with cryptorchidism and NOA, which was confirmed to cause aberrant splicing of exons 15 and 16, leading to an abnormal transcript initiation and a frameshift using minigene assay.\r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated) \nSources: Literature; to: i) PMID: 39222519- a compound heterozygous variant (intragenic deletion of exon 1-5 and missense variant p.Glu77Lys) in a family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism. The Glu77Lys mutant showed no cAMP activity and hence failed to signal in response to INSL3, confirming a loss-of-function mechanism.\r\n\r\nii) PMID: 37208861- Homozygous LOF (p.Phe469Serfs*8) and missense (p.Asn339Asp) variants in two unrelated infertile man with impaired spermatogenesis. The missense variant primarily impacts cell surface expression of the protein which directly correlates with reduced INSL3 activation (following protein expression studies). \r\n\r\niii) PMID: 38430325 - a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in a case with cryptorchidism and NOA, which was confirmed to cause aberrant splicing of exons 15 and 16, leading to an abnormal transcript initiation and a frameshift using minigene assay.\r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated) \r\nSources: Literature",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:35:10.518842+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: RXFP2 was added\ngene: RXFP2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: RXFP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RXFP2 were set to 39222519; 37208861; 38430325\nReview for gene: RXFP2 was set to GREEN\nAdded comment: i) PMID: 39222519 (2024)- a compound heterozygous variant (intragenic deletion of exon 1-5 and missense variant p.Glu77Lys) in a family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism. The Glu77Lys mutant showed no cAMP activity and hence failed to signal in response to INSL3, confirming a loss-of-function mechanism.\r\n\r\nii) PMID: 37208861 (2023)- Homozygous LOF (p.Phe469Serfs*8) and missense (p.Asn339Asp) variants in two unrelated infertile man with impaired spermatogenesis. The missense variant primarily impacts cell surface expression of the protein which directly correlates with reduced INSL3 activation (following protein expression studies). \r\n\r\niii) PMID: 38430325 - a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in a case with cryptorchidism and NOA, which was confirmed to cause aberrant splicing of exons 15 and 16, leading to an abnormal transcript initiation and a frameshift using minigene assay.\r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated) \nSources: Literature",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:24:47.563785+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 23582645- 3 heterozygous missense variants in 3 unrelated infertile men, and studies in transfected CHO-K1 cells revealed reduced interactions with CFTR and complete failure of the all three mutant to activate CFTR-dependent anion transport. Immunoblot analysis also showed that the mutant protein was significantly less abundant than wildtype and the decreased abundance of the mutant protein results from instability and proteasomal degradation.\r\n\r\nii) PMID: 34923715- Compound heterozygous variants in two unrelated infertile Chinese men with severe asthenozoospermia. The sperm motility of these homozygous probands was severely reduced, compared to the moderately reduced motility of sperm from the previously reported heterozygous probands (confirmed by immunoblot), consistent with SLC26A8 being the cause of their infertility phenotype,\r\n\r\niii) PMID: 35181959- 3 heterozygous variants ( 2-bp deletion, V731I, 1-bp deletion) in 3 unrelated infertile men with asthenoteratozoospermia, and although transfection study showed a significantly reduction of SLC26A8 expression to nearly absence in transfected HEK293 cells, immunostaining of patient sperm showed no difference in SLC26A8 expression compared to control sperm and western blot analysis of spermatozoa lysates confirmed the similar expression of SLC26A8 between patient and control sperm. Also mentioned that previous studies (PMID: 22121115 and PMID: 17517695) had shown that Slc26a8 +/- mice were fertile, whereas Slc26a8-null mice were infertile, the authors suggested that heterozygous SLC26A8 variants might not be the direct cause of the asthenoteratozoospermic phenotype observed in infertile men, and that SLC26A8-associated male infertility is likely an autosomal recessive disorder. \nSources: Literature; to: i) PMID: 23582645- 3 heterozygous missense variants in 3 unrelated infertile men, and studies in transfected CHO-K1 cells revealed reduced interactions with CFTR and complete failure of the all three mutant to activate CFTR-dependent anion transport. \r\n\r\nii) PMID: 34923715- Compound heterozygous variants in two unrelated infertile Chinese men with severe asthenozoospermia. The sperm motility of these homozygous probands was severely reduced, compared to the moderately reduced motility of sperm from the previously reported heterozygous probands (confirmed by immunoblot), consistent with SLC26A8 being the cause of their infertility phenotype,\r\n\r\niii) PMID: 35181959- 3 heterozygous variants ( 2-bp deletion, V731I, 1-bp deletion) in 3 unrelated infertile men with asthenoteratozoospermia. Although transfection study showed a significantly reduction of SLC26A8 expression to nearly absence in transfected HEK293 cells, immunostaining of patient sperm showed no difference in SLC26A8 expression compared to control sperm and western blot analysis of spermatozoa lysates confirmed the similar expression of SLC26A8 between patient and control sperm. Also mentioned that previous studies (PMID: 22121115 and PMID: 17517695) had shown that Slc26a8 +/- mice were fertile, whereas Slc26a8-null mice were infertile, the authors suggested that heterozygous SLC26A8 variants might not be the direct cause of the asthenoteratozoospermic phenotype observed in infertile men, and that SLC26A8-associated male infertility is likely an autosomal recessive disorder. ",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:23:59.930151+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SLC26A8 was added\ngene: SLC26A8 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SLC26A8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC26A8 were set to 23582645; 34923715; 35181959\nPhenotypes for gene: SLC26A8 were set to Spermatogenic failure 3, MIM# 606766\nReview for gene: SLC26A8 was set to GREEN\nAdded comment: i) PMID: 23582645- 3 heterozygous missense variants in 3 unrelated infertile men, and studies in transfected CHO-K1 cells revealed reduced interactions with CFTR and complete failure of the all three mutant to activate CFTR-dependent anion transport. Immunoblot analysis also showed that the mutant protein was significantly less abundant than wildtype and the decreased abundance of the mutant protein results from instability and proteasomal degradation.\r\n\r\nii) PMID: 34923715- Compound heterozygous variants in two unrelated infertile Chinese men with severe asthenozoospermia. The sperm motility of these homozygous probands was severely reduced, compared to the moderately reduced motility of sperm from the previously reported heterozygous probands (confirmed by immunoblot), consistent with SLC26A8 being the cause of their infertility phenotype,\r\n\r\niii) PMID: 35181959- 3 heterozygous variants ( 2-bp deletion, V731I, 1-bp deletion) in 3 unrelated infertile men with asthenoteratozoospermia, and although transfection study showed a significantly reduction of SLC26A8 expression to nearly absence in transfected HEK293 cells, immunostaining of patient sperm showed no difference in SLC26A8 expression compared to control sperm and western blot analysis of spermatozoa lysates confirmed the similar expression of SLC26A8 between patient and control sperm. Also mentioned that previous studies (PMID: 22121115 and PMID: 17517695) had shown that Slc26a8 +/- mice were fertile, whereas Slc26a8-null mice were infertile, the authors suggested that heterozygous SLC26A8 variants might not be the direct cause of the asthenoteratozoospermic phenotype observed in infertile men, and that SLC26A8-associated male infertility is likely an autosomal recessive disorder. \nSources: Literature",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:17:08.717512+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:16:38.724093+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SYCP3 was added\ngene: SYCP3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SYCP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYCP3 were set to 14643120; 19110213\nPhenotypes for gene: SYCP3 were set to Spermatogenic failure 4, Recurrent pregnancy loss 4, MIM# 270960\nReview for gene: SYCP3 was set to GREEN\nAdded comment: Spermatogenic failure 4, MIM# 270960\r\ni) PMID: 14643120- identified a heterozygous 1-bp deletion (643delA) in 2 unrelated patients with azoospermia with with maturation arrest , resulting in a premature stop codon and truncation of the C-terminal, coiled-coil-forming region of the protein. The mutant protein showed greatly reduced interaction with the wildtype protein in vitro and interfered with SYCP3 fiber formation in cultured cells. The results suggested that SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein by dominant-negative interference.\r\n\r\nPregnancy loss, recurrent, 4, MIM# 270960\r\ni) PMID: 19110213- identified a heterozygous deletion and a point variant (-16delACTT in intron 7 and 657T-C transition at the last nucleotide of exon 8) in 2 of the women with recurrent pregnancy loss that were not found in 150 fertile women. Both mutant proteins were shown to inhibit normal fiber formation of SYCP3 when coexpressed in a heterologous system. This suggested that the heterozygous variants are likely to form aberrant lateral elements in the synaptonemal complex in a dominant-negative manner, possibly leading to abnormal chromosomal behavior in meiosis I during oogenesis that might lead to recurrent miscarriage. Also noted that the SYCP3-related phenotype in humans, in which affected males are infertile whereas affected females have recurrent pregnancy loss, is similar to that seen in Sycp3-deficient mice (Yuan et al., 2000; Yuan et al., 2002). \nSources: Literature",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-04-03T18:00:54.314194+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: KHDC3L was added\ngene: KHDC3L was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KHDC3L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KHDC3L were set to 21885028; 19246479; 23232697; 31847873; 31609975; 29606347\nPhenotypes for gene: KHDC3L were set to Recurrent hydatidiform mole 2, MIM# 614293\nAdded comment: Biallelic variants have been reported for several unrelated families with recurrent complete hydatidiform mole (CHM) pregnancy- predominantly biparental and RPL- PMID: 21885028, 19246479, 23232697.\r\n\r\nNew evidence- \r\ni) PMID 31847873: homozygous LOF variant in a woman with multiple consanguineous marriages in her extended family and history of 2 biparental complete hydatidiform mole (BiCHM) and methylation study on her oocytes revealed a genome-wide deficit of DNA methylation compared with normal human oocytes.\r\n\r\nii) PMID: 31609975- two deletions of KHDC3L (p.E150_V160del and p.E150_V172del) in female RPL patients, both of which harbor a common loss of Thr156 and are impaired in PARP1 activation and homologous recombination (HR) repair. Also provided functional evidence that KHDC3L dysfunction causes PARP1 inhibition and HR-mediated DNA repair deficiency, which is synthetically lethal.\r\n\r\niii) PMID: 29606347- a novel homozygous frameshift p.Q15Rfs*25 variant in a female patient (II-1) from family 4 with a history of 2 spontaneous abortions and x2 partial hydatidiform moles, and her embryos formed after ICSI are fertilized normally but arrest at the morula stage. \nSources: Literature",
"entity_name": "KHDC3L",
"entity_type": "gene"
},
{
"created": "2025-04-03T17:38:51.313952+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PADI6 was added\ngene: PADI6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PADI6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PADI6 were set to 29693651; 33583041; 33221824; 27730629; 27545678\nPhenotypes for gene: PADI6 were set to Oocyte/zygote/embryo maturation arrest 16, #MIM 617234\nReview for gene: PADI6 was set to GREEN\nAdded comment: i) PMID: 29693651- a compound het variant (N598S and R682Q) in a female with a total of six pregnancy losses from natural spontaneous conceptions, two of them were initially diagnosed as miscarriages and four as molar pregnancy.\r\n\r\nii) PMID: 33583041- a novel homozygous missense variant (p.Ile599Asn) in a woman with a total of seven pregnancy losses from spontaneous conceptions, four HMs including two with fetuses and three miscarriages.\r\n\r\niii) PMID: 33221824- a compound het variant (p.Thr372Ala and p.Trp690*) in a German woman with and miscarriages and also occurrence of multilocus imprinting disturbance (MLID) in two children each carrying a heterozygous variant..\r\n\r\niv) PMID: 27730629- a homozygous nonsense variant (p.Arg457*) in a Saudi woman with primary infertility and early development arrest during embryonic cleavage stages after in vitro fertilization.\r\n\r\nv) PMID: 27545678- homozygous nonsense variant (p.Gln381∗) in one familial case (consisting of three sisters) and compound heterozygous variants in 2 other unrelated patients with primary infertility and early development arrest during embryonic cleavage stages after in vitro fertilization. \nSources: Literature",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2025-04-03T17:08:05.808684+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 35722368- homozygous missense variant (p.P119Q) in the female of unexplained recurrent pregnancy loss (RPL) couple (couple 29)\r\nii) PMID: 32938693- homozygous missense variant (p.V1251D) in two sisters with RPL and two of their POCs were characterised and found to be triploid digynic due to the failure of meiosis II.\r\niii) PMID: 34021051- novel homozygous frameshift variant (p.Val1321Glyfs*4, due to splicing causing exon skipping) in a patient with 16 RPL and one of her miscarriages is triploid digynic resulted from the failure of meiosis I. \r\n\r\nSupporting mouse evidence:\r\niv) PMID: 30770433- Ccnb3 knockout also causes female infertility due to the failure of metaphase to anaphase transition in meiosis I and the extrusion of the first polar body. The infertility in these mice appeared to be due to embryonic lethality before embryonic day 7.5 and some of their oocytes fertilised by intracytoplasmic sperm injection led to triploid embryos.\r\nv) PMID: 34850816- Ccnb3-deficient mouse model is similar to a human infertility condition—recurrent pregnancy loss (RPL). Their findings demonstrate that the triploidy of embryos derived from Ccnb3-deficient oocytes is the primary cause of embryo death (i.e., such embryos can be rescued with euploid nuclei, whereas cytoplasmic Ccnb3 transcript is dispensable for zygotic genome activation and embryo development).\r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated)\r\nSources: Literature \nSources: Literature; to: i) PMID: 35722368- homozygous missense variant (p.P119Q) in the female of unexplained recurrent pregnancy loss (RPL) couple (couple 29)\r\nii) PMID: 32938693- homozygous missense variant (p.V1251D) in two sisters with RPL and two of their POCs were characterised and found to be triploid digynic due to the failure of meiosis II.\r\niii) PMID: 34021051- novel homozygous frameshift variant (p.Val1321Glyfs*4, due to splicing causing exon skipping) in a patient with 16 RPL and one of her miscarriages is triploid digynic resulted from the failure of meiosis I. \r\n\r\nSupporting mouse evidence:\r\niv) PMID: 30770433- Ccnb3 knockout also causes female infertility due to the failure of metaphase to anaphase transition in meiosis I and the extrusion of the first polar body. The infertility in these mice appeared to be due to embryonic lethality before embryonic day 7.5 and some of their oocytes fertilised by intracytoplasmic sperm injection led to triploid embryos.\r\nv) PMID: 34850816- Ccnb3-deficient mouse model is similar to a human infertility condition—recurrent pregnancy loss (RPL). Their findings demonstrate that the triploidy of embryos derived from Ccnb3-deficient oocytes is the primary cause of embryo death (i.e., such embryos can be rescued with euploid nuclei, whereas cytoplasmic Ccnb3 transcript is dispensable for zygotic genome activation and embryo development).\r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated)\r\nSources: Literature ",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-03T17:07:51.370587+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: CCNB3: Changed rating: GREEN",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-03T17:07:36.630418+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CCNB3 was added\ngene: CCNB3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CCNB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCNB3 were set to 35722368; 32938693; 34021051; 30770433; 34850816\nAdded comment: i) PMID: 35722368- homozygous missense variant (p.P119Q) in the female of unexplained recurrent pregnancy loss (RPL) couple (couple 29)\r\nii) PMID: 32938693- homozygous missense variant (p.V1251D) in two sisters with RPL and two of their POCs were characterised and found to be triploid digynic due to the failure of meiosis II.\r\niii) PMID: 34021051- novel homozygous frameshift variant (p.Val1321Glyfs*4, due to splicing causing exon skipping) in a patient with 16 RPL and one of her miscarriages is triploid digynic resulted from the failure of meiosis I. \r\n\r\nSupporting mouse evidence:\r\niv) PMID: 30770433- Ccnb3 knockout also causes female infertility due to the failure of metaphase to anaphase transition in meiosis I and the extrusion of the first polar body. The infertility in these mice appeared to be due to embryonic lethality before embryonic day 7.5 and some of their oocytes fertilised by intracytoplasmic sperm injection led to triploid embryos.\r\nv) PMID: 34850816- Ccnb3-deficient mouse model is similar to a human infertility condition—recurrent pregnancy loss (RPL). Their findings demonstrate that the triploidy of embryos derived from Ccnb3-deficient oocytes is the primary cause of embryo death (i.e., such embryos can be rescued with euploid nuclei, whereas cytoplasmic Ccnb3 transcript is dispensable for zygotic genome activation and embryo development).\r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated)\r\nSources: Literature \nSources: Literature",
"entity_name": "CCNB3",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:54:59.782755+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CDC20 was added\ngene: CDC20 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CDC20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC20 were set to 32666501; 33683667; 33898437; 34218387\nPhenotypes for gene: CDC20 were set to Oocyte/zygote/embryo maturation arrest 14, MIM# 620276\nReview for gene: CDC20 was set to GREEN\nAdded comment: i) PMID: 32666501- Biallelic (homozygous/compound heterozygous) variants in 5 unrelated Chinese women with infertility due to oocyte maturation arrest. Knocked down mouse oocytes showed an metaphase I (MI) arrest phenotype that could be rescued by injection of wildtype human CDC20 cRNA; all of the variants significantly reduced the ability of CDC20 to rescue the phenotype.\r\n\r\nii) PMID: 33683667- a compound heterozygous (missense and nonsense) variant in a Chinese woman with infertility due to oocyte maturation abnormalities and early embryonic arrest.\r\n\r\niii) PMID: 33898437- 4 patients from 3 Chinese families with homozygous or compound heterozygous variants with infertility due to oocyte maturation arrest, fertilization failure, and early embryonic arrest. Functional analysis in mouse oocytes with knockdown of Cdc20 showed that the homozygous and compound heterozygous variants significantly reduced the ability of CDC20 to rescue the lack of PB1 extrusion (MI arrest).\r\n\r\niv) PMID: 34218387- homozygous missense variant in a Chinese woman with infertility due to oocyte maturation arrest at MI and fertilization failure of MII oocytes. \nSources: Literature",
"entity_name": "CDC20",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:51:02.294815+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23444378, 8268931, 17325173, 27217716, 29181528, 31827910; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:45:37.457931+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27178966, 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:42:49.505298+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:40:27.401027+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:35:07.500520+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:33:51.798926+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. \nSources: Literature; to: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. \r\n\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated)",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:32:52.304195+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TACC3 was added\ngene: TACC3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TACC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TACC3 were set to 36395215\nReview for gene: TACC3 was set to GREEN\nAdded comment: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. \nSources: Literature",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:24:29.638600+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ELL3 was added\ngene: ELL3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ELL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELL3 were set to 39820605\nReview for gene: ELL3 was set to GREEN\nAdded comment: PMID:39820605- 8 different heterozygous variants (5 missense, 3 splicing) in 8 unrelated couples who experienced consecutive early miscarriages due to embryonic aneuploidy. For the three splice variants, mini-gene splicing assays revealed that all led to abnormal splicing, and consequently premature termination of translation or exon skipping, consistent with LOF effect. Findings from functional analysis on human oocytes and knockout mouse oocytes overall supporting that ELL3 depletion increases the incidence of meiotic spindle abnormality and oocyte aneuploidy.\r\nNote: couldn't access MONDO # as website down (phenotypes to be updated) \nSources: Literature",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:24:24.507099+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2025-04-03T16:08:55.423252+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1 MIM#616033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-04-03T15:57:00.768008+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2025-04-03T15:50:28.014814+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26807262; Phenotypes: Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2025-04-03T15:43:32.565099+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 38564972; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM#615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2025-04-03T15:42:27.453405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38283630, 34877518, 22341971; Phenotypes: Hypermanganesemia with dystonia 1, MIM#613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2025-04-03T15:38:06.529044+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17764084; Phenotypes: Lysinuric protein intolerance, MIM#222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-04-03T15:34:23.710931+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 20876309, 25935105; Phenotypes: Immunodeficiency 10, MIM#612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2025-04-03T14:28:36.132098+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 38330802, 33568173; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2025-04-03T14:19:30.053212+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500, Spinocerebellar ataxia, autosomal recessive 7 MIM#609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2025-04-03T14:02:24.836902+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684, 36738896; Phenotypes: Pontocerebellar hypoplasia, type 7 MIM#614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2025-04-03T14:00:09.126405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, MIM#600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2025-04-03T13:41:38.445224+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381, 32740904, 32162791; Phenotypes: Warburg micro syndrome 4 MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2025-04-03T13:22:37.660732+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: WNT6 was added\ngene: WNT6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: WNT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNT6 were set to 36385415; 25750203\nPhenotypes for gene: WNT6 were set to recurrent pregnancy loss susceptibility, MONDO:0000144\nReview for gene: WNT6 was set to GREEN\nAdded comment: i) PMID: 36385415- heterozygous missense variant (p.Arg70Gly) in a female with recurrent pregnancy loss (C21) \r\n\r\nii) PMID: 25750203- four novel heterozygous (checked Sanger traces) variants (i.e, one missense P.Leu148Arg, one synonymous c. 522C>T, one variant in intron 1 c. 297+40G>A, and one variant in the 3′UTR c. 1127G>A ) in 4 women with unexplained recurrent miscarriages (RM), but only the missense variant was shown to affect the functional region of WNT6 that might explain the unexplained RM \nSources: Literature",
"entity_name": "WNT6",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:34:02.553834+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34925453, 26027496, 26987875, 30891060, 28484880; Phenotypes: Spondyloocular syndrome MIM#605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:14:37.655653+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:14:37.653106+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Consider exclusion (Amber) as we will miss a high proportion of cases due to the founder variant being a 1kb deletion",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:14:37.633083+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Green List (High Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:14:33.270546+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CLN3.",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:12:14.893837+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2025-04-03T12:01:04.871888+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11254442, 18757878, 20301707, 29661901; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:57:02.157059+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: USP26 was added\ngene: USP26 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: USP26 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: USP26 were set to 34202084; 27089915\nPhenotypes for gene: USP26 were set to Spermatogenic failure, X-linked 6, MIM# 301101\nReview for gene: USP26 was set to GREEN\nAdded comment: i) PMID: 34202084- hemizygous missense variants in 2 unrelated affected Chinese men with infertility due to asthenoteratozoospermia (R825G in proband H002, and N799S in proband H042) and functional analysis showed markedly reduced USP26 mRNA and protein levels in patient sperm.\r\n\r\nii) PMID: 27089915- a novel hemizygous missense variant R344W in two affected Chinese men with non-obstructive azoospermia, which has been shown functionally to have reduce binding affinity and deubiquitinating activity of USP26 to androgen receptors. \nSources: Literature",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:56:36.370139+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301442; Phenotypes: Usher syndrome, type 1G MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:45:23.927685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24501276, 24626631, 39152716, 32878022, 32439618, 32067349; Phenotypes: Intellectual developmental disorder, autosomal recessive 44, MIM #615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:41:22.263322+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109, 27763745; Phenotypes: Kaufman oculocerebrofacial syndrome MIM#244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:23:04.082110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2429",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CDKL1 was added\ngene: CDKL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKL1 were set to PMID: 40088891\nPhenotypes for gene: CDKL1 were set to Neurodevelopmental disorder, MONDO:0700092, CDKL1-related\nMode of pathogenicity for gene: CDKL1 was set to Other\nReview for gene: CDKL1 was set to AMBER\nAdded comment: CDKL1 encodes a cyclin dependent kinase of which there are CDKL1-5 in humans.\r\n(CDKL5 has been associated with a neurodevelopmental disorder previously.)\r\n\r\nBereshneh et al describe 2 individuals with a neurodevelopmental disorder with de novo variants in CDKL1 sourced from databases containing individuals with neurodevelopmental disorders, no additional phenotypic information was provided. Both variants were missense and present in the population (c.505C>T - 13 heterozygotes in gnomad 4, c.344T>C - 2 heterozygotes gnomad 4).\r\n\r\nBoth missense variants were located in the kinase domain and dominant negative mechanism was postulated based on drosophilia studies.\r\n\r\nFunctional studies in drosphilia showed variants seen in probands partially rescued a loss of function model however overexpression of transcripts containing the variants resulted in a more severe phenotype suggesting dominant negative.\r\nAuthors also noted the larger than expected number of LOF variants in gnomad for the disease to be caused by this mechanism. \nSources: Literature",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:21:55.493902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.96",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CDKL1 was added\ngene: CDKL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKL1 were set to PMID: 40088891\nPhenotypes for gene: CDKL1 were set to Neurodevelopmental disorder, MONDO:0700092, CDKL1-related\nMode of pathogenicity for gene: CDKL1 was set to Other\nReview for gene: CDKL1 was set to AMBER\nAdded comment: CDKL1 encodes a cyclin dependent kinase of which there are CDKL1-5 in humans.\r\n(CDKL5 has been associated with a neurodevelopmental disorder previously.)\r\n\r\nBereshneh et al describe 2 individuals with a neurodevelopmental disorder with de novo variants in CDKL1 sourced from databases containing individuals with neurodevelopmental disorders, no additional phenotypic information was provided. Both variants were missense and present in the population (c.505C>T - 13 heterozygotes in gnomad 4, c.344T>C - 2 heterozygotes gnomad 4).\r\n\r\nBoth missense variants were located in the kinase domain and dominant negative mechanism was postulated based on drosophilia studies.\r\n\r\nFunctional studies in drosphilia showed variants seen in probands partially rescued a loss of function model however overexpression of transcripts containing the variants resulted in a more severe phenotype suggesting dominant negative.\r\nAuthors also noted the larger than expected number of LOF variants in gnomad for the disease to be caused by this mechanism. \nSources: Literature",
"entity_name": "CDKL1",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:14:54.058984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2429",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CDKL2 was added\ngene: CDKL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKL2 were set to PMID: 40088891\nPhenotypes for gene: CDKL2 were set to Neurodevelopmental disorder, MONDO:0700092, CDKL2-related\nMode of pathogenicity for gene: CDKL2 was set to Other\nReview for gene: CDKL2 was set to AMBER\nAdded comment: CDKL2 encodes a cyclin dependent kinase of which there are CDKL1-5 in humans.\r\n(CDKL5 has been associated with a neurodevelopmental disorder previously.)\r\n\r\nBereshneh et al describe 5 individuals with a neurodevelopmental disorder with de novo variants in CDKL2. 3 variants were missense, 1 was an in frame single amino acid deletion.\r\n2 of the individuals described were monozygotic twins who were born at 30/40 and also had PVL on neuroimaging.\r\n\r\nPhenotype included GDD (5/5) - severity not described, speech impairment (5/5), motor impairment (4/5), epilepsy (3/5), ID (3/5), IUGR (3/5), poor growth postnatally (3/5), GI/feeding issues (3/5), tone abnormality (3/5)\r\n\r\nMissense variants were located in the kinase domain and dominant negative mechanism was postulated based on drosophilia studies.\r\n\r\nFunctional studies in drosphilia showed variants seen in probands did not completely rescue a loss of function model, as well as this, overexpression of transcripts containing the variants resulted in a more severe phenotype suggesting dominant negative.\r\nAuthors also noted the larger than expected number of LOF variants in gnomad for the disease to be caused by this mechanism.\r\nSources: Literature \nSources: Literature",
"entity_name": "CDKL2",
"entity_type": "gene"
},
{
"created": "2025-04-03T11:11:57.317768+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.96",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CDKL2 was added\ngene: CDKL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKL2 were set to PMID: 40088891\nPhenotypes for gene: CDKL2 were set to Neurodevelopmental disorder, MONDO:0700092, CDKL2-related\nPenetrance for gene: CDKL2 were set to Complete\nMode of pathogenicity for gene: CDKL2 was set to Other\nReview for gene: CDKL2 was set to AMBER\nAdded comment: CDKL2 encodes a cyclin dependent kinase of which there are CDKL1-5 in humans. \r\n(CDKL5 has been associated with a neurodevelopmental disorder previously.)\r\n\r\nBereshneh et al describe 5 individuals with a neurodevelopmental disorder with de novo variants in CDKL2. 3 variants were missense, 1 was an in frame single amino acid deletion. \r\n2 of the individuals described were monozygotic twins who were born at 30/40 and also had PVL on neuroimaging.\r\n\r\nPhenotype included GDD (5/5) - severity not described, speech impairment (5/5), motor impairment (4/5), epilepsy (3/5), ID (3/5), IUGR (3/5), poor growth postnatally (3/5), GI/feeding issues (3/5), tone abnormality (3/5)\r\n\r\nMissense variants were located in the kinase domain and dominant negative mechanism was postulated based on drosophilia studies.\r\n\r\nFunctional studies in drosphilia showed variants seen in probands did not completely rescue a loss of function model, as well as this, overexpression of transcripts containing the variants resulted in a more severe phenotype suggesting dominant negative.\r\nAuthors also noted the larger than expected number of LOF variants in gnomad for the disease to be caused by this mechanism. \nSources: Literature",
"entity_name": "CDKL2",
"entity_type": "gene"
},
{
"created": "2025-04-03T10:47:20.176573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22101682, 22371254, 39654599, 36349186, 35370044, 34828389; Phenotypes: Congenital myopathy 10A, severe variant, MIM #614399, Congenital myopathy 10B, mild variant, MIM #620249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEGF10",
"entity_type": "gene"
}
]
}