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"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=218",
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{
"created": "2025-05-30T13:16:40.718280+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLG were set to 29992832; 16595552; 22405928; 20701905\nPhenotypes for gene: POLG were set to Premature ovarian failure\nReview for gene: POLG was set to GREEN\nAdded comment: POLG-related disorders and mitochondrial diseases\r\ni) PMID: 29992832: Identified the first homozygous POLG variant (p.R964C) in a female with ovarian dysfunction and complete fertilization failure undergoing ICSI; previous papers have reported various heterozygous variants in association with POI/POF.\r\n\r\nii) PMID: 16595552- heterozygous p.Y955C and p.R943H variants reported in unrelated patients with premature ovarian failure.\r\n\r\niii) PMID: 22405928- heterozygous p.Y951N mutation in POLG was found in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis (a severe form of POF) and 3-methylglutaconic aciduria.\r\n\r\niv) PMID: 20701905- heterozygous p.R953C variant in a female with spontaneous POI. \nSources: Literature",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:12:45.392715+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NR5A1 was added\ngene: NR5A1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR5A1 were set to 20887963; 19246354; 37409232\nPhenotypes for gene: NR5A1 were set to Premature ovarian failure 7, MIM #612964; Spermatogenic failure 8, # 613957\nReview for gene: NR5A1 was set to GREEN\nAdded comment: New paper: \r\ni) PMID: 37409232- Novel heterozygous frameshift variant p.(Phe70Serfs*5) in a patient with with a disorder of sex development and arrest of spermatogenesis at the spermatocyte stage. \nSources: Literature",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:09:30.640562+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: MSH5: Changed rating: GREEN",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:09:14.242290+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: MSH5 was added\ngene: MSH5 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MSH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSH5 were set to 28175301; 18166824; 34755185\nPhenotypes for gene: MSH5 were set to Premature ovarian failure 13, MIM #617442; Spermatogenic failure 74, MIM# 619937\nAdded comment: Literature in OMIM- PubMed: 28175301;18166824;34755185 \r\n\r\nNew paper:\r\ni) PMID: 36793102 (2023)- digenic het variants in MSH4 and MSH5 (first report indicating that not only one subunit deficiency, but also dysfunctional MSH4-MSH5 interaction or cumulative haploinsufficiency of both subunits, may disrupt homologous recombination during meiosis, finally causing POI). \r\n\r\nDocumented in FeRGI database- moderate evidence for POI. \nSources: Literature",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:05:09.461209+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to 18364375; 19283854; 39595984\nPhenotypes for gene: LMNA were set to Female infertility, premature ovarian insufficiency\nReview for gene: LMNA was set to GREEN\nAdded comment: Variants reported associated with female infertility and POI:\r\ni) PMID: 18364375- seven families with 14 affected patients exhibiting heterozygous LMNA variants (five R482W, one R482Q, one R439C) and 7 percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 4 suffered from infertility, and 7 experienced at least one miscarriage, also quoted that \"The prevalence of PCOS, infertility, miscarriages, gestational diabetes, and/or macrosomia and eclampsia or fetal death was much higher in LMNA-mutated women than in the general population (20–27)\"\r\n\r\nii) PMID: 19283854- novel heterozygous missense pLeu59Arg in two unrelated patients with cardinal features of Malouf syndrome, that is, dilated cardiomyopathy and premature ovarian failure\r\n\r\niii) PMID: 39595984- Six different P/LP heterozygous variants in six unrelated patients with apparently isolated diminished ovarian reserve. \nSources: Literature",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:00:53.425886+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: LHB was added\ngene: LHB was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LHB were set to 1727547; 12189497; 19126631; 17761593; 19890128; 15569941; 39786527; 35470463\nPhenotypes for gene: LHB were set to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300\nReview for gene: LHB was set to GREEN\nAdded comment: Literature in OMIM- PubMed: 1727547;12189497; 19126631; 17761593; 19890128; 15569941 \r\n\r\nNew papers: \r\ni) PMID: 39786527- compound heterozygous variants in a female patient with congenital hypogonadotropic hypogonadism (CHH) and functional study revealed higher intracellular LH concentrations and lower extracellular LH concentrations compared to the wild type indicate secretion dysfunction for LH \r\n\r\nii) PMID: 35470463- a novel homozygous missense p.Cys46Arg in an Indian male with infertility \nSources: Literature",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:57:52.664126+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS2 were set to 23541342; 26657938; 30737337; 32442335\nPhenotypes for gene: LARS2 were set to Perrault syndrome 4, MIM# 615300\nReview for gene: LARS2 was set to GREEN\nAdded comment: Premature ovarian failure (POF) in females\r\n- Literature in OMIM- PubMed: 23541342, 26657938, 30737337, 32442335\r\n\r\nDocumented in FeRGI database- strong evidence for POI. \nSources: Literature",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:56:07.560538+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: FOXD1: Changed phenotypes: Recurrent pregnancy loss and repeated implantation failure susceptibility",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:53:20.783570+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FOXD1 was added\ngene: FOXD1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FOXD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXD1 were set to 27805902; 31395028\nReview for gene: FOXD1 was set to GREEN\nAdded comment: i) PMID: 27805902- 18 heterozygous (only 10 were nonsynonymous) variants were identified only in recurrent spontaneous abortion (RSA) patients (total of 33 patients) not seen in ctrl group, and only 3 variants had functional assays performed- p.Ala356Gly (x1 patient),p.Ile364Met (x2 patients), and p.Ins429AlaAla (x12 patients). In vitro assays revealed they had a functional effect as they led to perturbations in FOXD1 transactivation properties on promoters of the Placental Growth Factor (PGF) and the complement component gene (C3) having key roles during implantation/placentation. \r\n\r\nii) PMID: 31395028- 9 heterozygous non-synonymous variants in patients affected by PE, IUGR, RPL and repeated implantation failure (RIF) , two of which (p.His267Tyr found in one RIF patient and p.Arg57del in one IUGR woman) represented novel and coherent candidates for in vitro testing. Functional experiments revealed that both led to an increased C3 (complement C3) promoter transcriptional activity. Also found increased FOXD1-p.Arg57del variant transactivation capacity on the PlGF (placental growth factor) promoter.The FOXD1 p.Ala356Gly and p.Ile364Met variants (previously found in RPL patients in PMID: 27805902) have also been identified in the present work in women with PE and IUGR and with isolated IUGR, respectively.\r\n\r\nDocumented in FeRGI database- limited evidence for repeated implantation failure. \nSources: Literature",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:50:06.826302+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SPEF2 was added\ngene: SPEF2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 39753944; 38568462\nPhenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM# 618751\nReview for gene: SPEF2 was set to GREEN\nAdded comment: Literature in OMIM- PubMed: 31151990, 31278745, 31048344\r\n\r\nNew papers\r\ni) PMID: 39753944 - two patients with MMAF carrying novel biallelic variants (homozygous p.Glu715Ter and com het p.Arg1123Gln/p.Ile193Thr). Functional analysis of two novel missense variants of SPEF2 demonstrated a mild impact on morphological extension in a transfected cell model. These cells exhibited alterations in cell diameter, likely reflecting impaired cargo protein transport due to SPEF2 mutations, thereby affecting cell growth and extension.\r\n\r\nii) PMID: 38568462 -four novel SPEF2 variants, including one novel homozygous splicing site variant c.4447 + 1G > A, novel compound heterozygous nonsense variants p.R447* and p.E549* and one novel homozygous missense variant p.D842N. All variants were present at very low levels in public databases, predicted to be deleterious in silico prediction tools, and were further confirmed deleterious by in vitro analyses. Ultrastructural analyses of the spermatozoa of the patients revealed the absence of the central pair complex in the sperm flagella.\r\n\r\nIntolerome database- candidate gene for spontaneous miscarriage \nSources: Literature",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:45:31.720791+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAAF1 were set to 19944400; 19944405; 33174003\nPhenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 13, #MIM 613193\nReview for gene: DNAAF1 was set to GREEN\nAdded comment: Literature in OMIM: PMID:19944400;19944405\r\n\r\nNew paper:\r\nPMID: 33174003- biallelic variants in two patients (P1- com het p.Met1Ile,.124+1G>C, and p.Glu126Lysfs*35 and P2- hom p.Lys315*) with primary ciliary dyskinesia and infertility.\r\n\r\nDocumented in FeRGI database- limited evidence for reduced fertility. \nSources: Literature",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:40:48.898408+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti, MIM# 308300\nReview for gene: IKBKG was set to GREEN\nAdded comment: Intolerome database- Known for male lethal. First trimester miscarriage. \r\n\r\nGene Review- Women with IP are at increased risk for pregnancy loss, presumably related to low viability of male fetuses. It is common for women with IP to experience multiple miscarriages, often around the third or fourth month of gestation. \nSources: Literature",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:38:57.728401+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Characterized by ovarian dysgenesis in females\r\n- Literature in OMIM: PubMed: 20673864\r\n\r\nNew paper reported ovarian dysgenesis phenotype\r\ni) PMID: 28830375- novel homozygous variant p.A100S in two female siblings \nSources: Literature; to: Characterized by ovarian dysgenesis in females\r\n- Literature in OMIM: PubMed: 20673864\r\n\r\nNew paper reported ovarian dysgenesis phenotype\r\ni) PMID: 28830375- novel homozygous variant p.A100S in two female siblings \r\n\r\nDocumented in FeRGI database- moderate evidence for POI.\r\nSources: Literature",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:36:43.928494+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD17B4 were set to 20673864; 28830375\nPhenotypes for gene: HSD17B4 were set to Perrault syndrome 1, #MIM 233400\nReview for gene: HSD17B4 was set to GREEN\nAdded comment: Characterized by ovarian dysgenesis in females\r\n- Literature in OMIM: PubMed: 20673864\r\n\r\nNew paper reported ovarian dysgenesis phenotype\r\ni) PMID: 28830375- novel homozygous variant p.A100S in two female siblings \nSources: Literature",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:30:27.885895+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "commented on gene: H6PD: Literature in OMIM: PMID: 12858176, 18628520, 18628520\r\n- Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. \r\n\r\nPMID: 36385415- Reported a case with RPL (C22), carrying heterozygous frameshift p.Ser391AlafsTer102 called pathogenic, absent from Clinvar",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:29:52.310354+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:29:45.646807+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: H6PD was added\ngene: H6PD was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: H6PD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: H6PD were set to 12858176; 18628520; 18628520; 36385415\nPhenotypes for gene: H6PD were set to Cortisone reductase deficiency 1, MIM# 604931\nReview for gene: H6PD was set to GREEN\nAdded comment: Literature in OMIM: PMID: 12858176, 18628520, 18628520\r\n- Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. \r\n\r\nPMID: 36385415- Reported a case with RPL (C22), carrying heterozygous frameshift p.Ser391AlafsTer102 called pathogenic, absent from Clinvar \nSources: Literature",
"entity_name": "H6PD",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:20:11.303112+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: GNRH1 was added\ngene: GNRH1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNRH1 were set to 19535795; 19567835; 32134721; 31200363; 26595427; 34923491\nPhenotypes for gene: GNRH1 were set to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841\nReview for gene: GNRH1 was set to GREEN\nAdded comment: New paper:\r\ni) PMID: 34923491- Two male probands with reproductive phenotypes (but not sterile) in their Indian cohort carried two novel pathogenic biallelic GNRH1 variants (p.Glu24Leu, c.238-2A>G); also reviewed previously reported cases with GNRH1 variants suggests GNRH1 biallelic variants lead to severe reproductive phenotype, with low gonadotropin levels. \nSources: Literature",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:17:10.874129+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF8 were set to 20463092; 18596921\nPhenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702\nReview for gene: FGF8 was set to GREEN\nAdded comment: Characterized by absent or incomplete sexual maturation (Females an be presented with Primary amenorrhea).\r\nLiterature in OMIM- PMID: 20463092, 18596921\r\n\r\nDocumented in FeRGI database- moderate evidence for Hypogonadotropic hypogonadism (HH). \nSources: Literature",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:13:06.960661+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ESR1 was added\ngene: ESR1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ESR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESR1 were set to 8090165; 23841731; 27754803\nPhenotypes for gene: ESR1 were set to Estrogen resistance, MIM# 615363\nReview for gene: ESR1 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 8090165; 23841731; 27754803 \nSources: Literature",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:06:54.558377+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: EIF2B2 was added\ngene: EIF2B2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2B2 were set to 12707859; 21484434\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, MIM# 603896\nReview for gene: EIF2B2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:03:27.001582+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CDC25A was added\ngene: CDC25A was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CDC25A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC25A were set to 40342881; 30009144; 16720623\nPhenotypes for gene: CDC25A were set to Spermatogenic failure\nReview for gene: CDC25A was set to GREEN\nAdded comment: i) PMID: 40342881- Five novel heterozygous variants (Lys500Asn in 8 cases, His459Leu in 12 cases, Ser485Asp, Thr503Ser, c.1434 + 5G>C) and one previously identified SNP (in 7 cases) in azoospermic males from the Bengali-speaking Indian population. qPCR analysis indicated downregulation of CDC25A mRNA expression in azoospermic patients relative to fertile controls. Relative expression levels of CDC25A were about 2.5-fold lower in azoospermic testicular tissue and semen samples, reflecting diminished transcriptional activity in affected patients. This reduction in gene expression may reflect a potential functional deficiency of CDC25A, contributing to spermatogenic arrest. The decreased level of CDC25A mRNA levels corresponds with the findings of pathogenic variants identified in azoospermic patients, thus solidifying the evidence of CDC25A mutations contributing to male infertility. \r\n\r\nii) PMID: 30009144,16720623- decreased expression of CDC25A observed in testicular biopsies from azoospermic men, suggesting association with meiotic arrest as the etiology of spermatogenic failure. \nSources: Literature",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-05-30T12:00:52.522187+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CATSPER1 was added\ngene: CATSPER1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CATSPER1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CATSPER1 were set to 19344877; 11595941\nPhenotypes for gene: CATSPER1 were set to Spermatogenic failure 7, MIM# 612997\nReview for gene: CATSPER1 was set to GREEN\nAdded comment: Literature in OMIM- PMID:19344877;11595941\r\n- Homozygous Lys180LysfsTer8 (2 brother) and Asp317MetfsTer18 (unrelated male) in 3 infertile males from 2 consanguineous Iranian families. Both were truncating variants.CatSper1−/− mouse sperm were sluggish, showed less directed movement and exhibited impaired track speed, path velocity and progressive velocity.21 This markedly reduced motility was shown to eliminate the ability of CatSper-null sperm to fertilize oocytes in vitro. \r\n\r\nNo new cases reported so far. \nSources: Literature",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:58:03.356325+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID: 38342987- novel hemizygous nonsense variant (c.1564G > T:p.Glu522*) in a male patient with oligoasthenoteratozoospermia (OAT) from a Han Chinese family. Functional analysis showed that the variant produced a truncated protein with altered cellular localization and a dysfunctional interaction with SKP1 (S-phase kinase-associated protein 1). Also identified four hemizygous missense variants (c.2615T > G:p.Val872Gly, c.2669G > A:p.Arg890Gln, c.3164A > G:p.Asp1055Gly and c.3344C > T:p.Pro1115Leu) in subjects with both OAT (1 of 325, 0.31%) and NOA (4 of 355, 1.13%). They hypothesized that the BCORL1 (c.2615 T > G, c.2669G > A, c.3164A > G, c.3344C > T) missense mutations may have led to an accumulation of dysfunctional toxic proteins that resulted in a more severe male infertility phenotype in the patient (NOA). \r\n\r\nii) PMID: 32376790- Hemizygous missense variant in a male patient with NOA without other diseases, which also found that the knockout of Bcorl1 in mice resulted in OAT with the abnormal brain development. It had not been previously linked to male infertility. This study demonstrates, for the first time, that loss of Bcorl1 causes spermatogenesis failure.\r\n\r\niii) PMID: 39267058- hemizygous missense variant (p.Arg19Gln) in a infertile male with oliogasthenozoospermia, no functional data\r\n\r\niv) PMID: 39189935- novel hemizygous missense variant (p.G1391R) and a recurrent variant (p.V872G) in BCORL1 from four OAT patients. Functional assays showed that the variants disturb the transcription of spermatogenetic genes such as SYCE1 and DAZL, impair the interaction with HDAC7, and cause epigenetic changes such as changes in level of histone modification with different extent, including the enhancement in acetylation of H3K14, and the reduction in acetylation of H4K5 and H4K8.\r\n\r\nByrne et al. 2023- male fetus terminated at 22+3 GA due to abnormal renal morphology, Cleft upper lip, Median cleft palate, Ovotestis, enlarged hyroid, oral frenulae carrying hemizygous p.Tyr1692Ter called VUS- novel phenotype \nSources: Literature; to: i) PMID: 38342987- novel hemizygous nonsense variant (c.1564G > T:p.Glu522*) in a male patient with oligoasthenoteratozoospermia (OAT) from a Han Chinese family. Functional analysis showed that the variant produced a truncated protein with altered cellular localization and a dysfunctional interaction with SKP1 (S-phase kinase-associated protein 1). Also identified four hemizygous missense variants (c.2615T > G:p.Val872Gly, c.2669G > A:p.Arg890Gln, c.3164A > G:p.Asp1055Gly and c.3344C > T:p.Pro1115Leu) in subjects with both OAT (1 of 325, 0.31%) and NOA (4 of 355, 1.13%). They hypothesized that the BCORL1 (c.2615 T > G, c.2669G > A, c.3164A > G, c.3344C > T) missense mutations may have led to an accumulation of dysfunctional toxic proteins that resulted in a more severe male infertility phenotype in the patient (NOA). \r\n\r\nii) PMID: 32376790- Hemizygous missense variant in a male patient with NOA without other diseases, which also found that the knockout of Bcorl1 in mice resulted in OAT with the abnormal brain development. It had not been previously linked to male infertility. This study demonstrates, for the first time, that loss of Bcorl1 causes spermatogenesis failure.\r\n\r\niii) PMID: 39267058- hemizygous missense variant (p.Arg19Gln) in a infertile male with oliogasthenozoospermia, no functional data\r\n\r\niv) PMID: 39189935- novel hemizygous missense variant (p.G1391R) and a recurrent variant (p.V872G) in BCORL1 from four OAT patients. Functional assays showed that the variants disturb the transcription of spermatogenetic genes such as SYCE1 and DAZL, impair the interaction with HDAC7, and cause epigenetic changes such as changes in level of histone modification with different extent, including the enhancement in acetylation of H3K14, and the reduction in acetylation of H4K5 and H4K8.\r\n\r\nSources: Literature",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:57:43.791743+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: BCORL1 was added\ngene: BCORL1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BCORL1 were set to 38342987; 32376790; 39267058; 39189935\nPhenotypes for gene: BCORL1 were set to Spermatogenic failure\nReview for gene: BCORL1 was set to GREEN\nAdded comment: i) PMID: 38342987- novel hemizygous nonsense variant (c.1564G > T:p.Glu522*) in a male patient with oligoasthenoteratozoospermia (OAT) from a Han Chinese family. Functional analysis showed that the variant produced a truncated protein with altered cellular localization and a dysfunctional interaction with SKP1 (S-phase kinase-associated protein 1). Also identified four hemizygous missense variants (c.2615T > G:p.Val872Gly, c.2669G > A:p.Arg890Gln, c.3164A > G:p.Asp1055Gly and c.3344C > T:p.Pro1115Leu) in subjects with both OAT (1 of 325, 0.31%) and NOA (4 of 355, 1.13%). They hypothesized that the BCORL1 (c.2615 T > G, c.2669G > A, c.3164A > G, c.3344C > T) missense mutations may have led to an accumulation of dysfunctional toxic proteins that resulted in a more severe male infertility phenotype in the patient (NOA). \r\n\r\nii) PMID: 32376790- Hemizygous missense variant in a male patient with NOA without other diseases, which also found that the knockout of Bcorl1 in mice resulted in OAT with the abnormal brain development. It had not been previously linked to male infertility. This study demonstrates, for the first time, that loss of Bcorl1 causes spermatogenesis failure.\r\n\r\niii) PMID: 39267058- hemizygous missense variant (p.Arg19Gln) in a infertile male with oliogasthenozoospermia, no functional data\r\n\r\niv) PMID: 39189935- novel hemizygous missense variant (p.G1391R) and a recurrent variant (p.V872G) in BCORL1 from four OAT patients. Functional assays showed that the variants disturb the transcription of spermatogenetic genes such as SYCE1 and DAZL, impair the interaction with HDAC7, and cause epigenetic changes such as changes in level of histone modification with different extent, including the enhancement in acetylation of H3K14, and the reduction in acetylation of H4K5 and H4K8.\r\n\r\nByrne et al. 2023- male fetus terminated at 22+3 GA due to abnormal renal morphology, Cleft upper lip, Median cleft palate, Ovotestis, enlarged hyroid, oral frenulae carrying hemizygous p.Tyr1692Ter called VUS- novel phenotype \nSources: Literature",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:40:14.626063+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAR were set to 28561207; 25982145; 24262145; 37770123; 32911246; 18705826\nPhenotypes for gene: ADAR were set to ADAR-related type 1 interferonopathy MONDO:0700261",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:31:21.965492+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KITLG was added\ngene: KITLG was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KITLG were set to 19375057; 21368769\nPhenotypes for gene: KITLG were set to hyperpigmentation with or without hypopigmentation, familial progressive\tMONDO:0007771\nMode of pathogenicity for gene: KITLG was set to Other",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:27:11.042034+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SASH1 was added\ngene: SASH1 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: SASH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SASH1 were set to 23333244; 27885802; 32981204\nPhenotypes for gene: SASH1 were set to dyschromatosis universalis hereditaria 1 MONDO:0024524",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:24:10.637656+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB6 was added\ngene: ABCB6 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCB6 were set to 23519333; 24224009; 24498303; 25288164; 35024399; 30430618\nPhenotypes for gene: ABCB6 were set to dyschromatosis universalis hereditaria 3 MONDO:0014169",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-05-30T11:13:12.834438+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Hereditary Pigmentary Disorders\nSet list of related panels to Abnormality of skin pigmentation; HP:0001000\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-30T02:52:13.008902+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "2.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-05-30T02:42:17.907953+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A6 as ready",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:42:17.900205+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:42:13.734510+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:42:01.868463+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A6 were set to ",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:38:41.610711+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:38:41.604202+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Green List (High Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:38:37.763954+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:38:26.215605+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:58.907343+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:58.900555+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Green List (High Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:53.394578+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:36.545802+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM138 were set to ",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:08.467399+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TK2 as ready",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:08.459920+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tk2 has been classified as Green List (High Evidence).",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:37:03.812045+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:36:52.040289+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TK2 were set to ",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:36:26.398075+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC2 as ready",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:36:26.391240+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Green List (High Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:36:22.467757+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:36:10.836535+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THOC2 were set to ",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:35:30.566722+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TH as ready",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:35:30.559561+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Green List (High Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:35:27.286089+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TH were changed from Segawa syndrome, recessive, MIM# 605407 to Segawa syndrome, recessive, MIM# 605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:35:01.991951+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM1 as ready",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:35:01.985584+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Green List (High Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:34:58.018765+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:34:44.693856+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM1 were set to ",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:34:14.549394+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TF as ready",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:34:14.542208+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tf has been classified as Green List (High Evidence).",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:34:10.256989+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TF were changed from Atransferrinemia, 209300 (3) to Atransferrinaemia MIM#209300",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:33:55.753993+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TF were set to ",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:33:28.875253+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TELO2 as ready",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:33:28.868554+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: telo2 has been classified as Green List (High Evidence).",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:33:21.424824+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TELO2 were changed from You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive to You-Hoover-Fong syndrome, MIM#616954",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:31:18.940760+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECPR2 as ready",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:31:18.934394+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:29:18.851970+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN3 as ready",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:29:18.845837+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Green List (High Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:29:14.730003+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:29:02.729681+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN3 were set to ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:28:34.522679+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN2 as ready",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:28:34.515315+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn2 has been classified as Green List (High Evidence).",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:28:29.991795+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:28:19.356453+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN2 were set to ",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:26:51.773027+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:26:51.764992+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:25:50.712961+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 (3) to Transcobalamin II deficiency MIM#275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:25:38.131822+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCN2 were set to ",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:25:10.751038+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCIRG1 as ready",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:25:10.744190+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:24:53.991603+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, 259700 (3) to Osteopetrosis, autosomal recessive 1 MIM#259700",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:24:38.769891+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCIRG1 were set to ",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:23:15.368753+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:23:15.361777+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:23:02.321642+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460 (3) to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410; Kenny-Caffey syndrome, type 1 MIM#244460",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:22:49.150594+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCE were set to ",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:22:09.468627+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCD as ready",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:22:09.459284+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Green List (High Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:21:35.687371+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:21:22.552724+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCD were set to ",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:19:53.750835+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:19:53.744490+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:19:42.774901+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:19:02.123431+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D23 as ready",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:19:02.115962+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d23 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:18:52.115077+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 11 MIM#617695",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:18:21.996150+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D23 were set to ",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:14:43.945272+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:14:43.938441+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
}
]
}