HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=195",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=193",
"results": [
{
"created": "2025-07-29T14:47:24.689682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxd1 has been classified as Green List (High Evidence).",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:39:51.846637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXD1 was added\ngene: FOXD1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FOXD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXD1 were set to 27805902; 31395028\nPhenotypes for gene: FOXD1 were set to Recurrent pregnancy loss and repeated implantation failure susceptibility, MONDO:0000144, FOXD1-related\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: Expert list",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:39:20.949912+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXD1 were changed from Recurrent pregnancy loss and repeated implantation failure susceptibility to Recurrent pregnancy loss and repeated implantation failure susceptibility, MONDO:0000144, FOXD1-related",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:37:15.156438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO43 as ready",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:37:15.145484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo43 has been classified as Green List (High Evidence).",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:37:07.938381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO43 as Green List (high evidence)",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:37:07.927331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo43 has been classified as Green List (High Evidence).",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:36:54.334314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO43 was added\ngene: FBXO43 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FBXO43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO43 were set to 34052850; 30878252; 34595750\nPhenotypes for gene: FBXO43 were set to Oocyte/zygote/embryo maturation arrest 12, MIM# 619697; Spermatogenic failure 64, MIM# 619696\nReview for gene: FBXO43 was set to GREEN\nAdded comment: Literature in OMIM: PMID: 34052850 (three different homozygous variants in 3 unrelated women; 30878252, 34595750 (two different families with different homozygous variants) \nSources: Expert list",
"entity_name": "FBXO43",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:34:43.040678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELL3 as ready",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:34:43.033514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ell3 has been classified as Green List (High Evidence).",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:34:29.334724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELL3 as Green List (high evidence)",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:34:29.324087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ell3 has been classified as Green List (High Evidence).",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:34:18.101134+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:34:11.293962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELL3 was added\ngene: ELL3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ELL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELL3 were set to 39820605\nPhenotypes for gene: ELL3 were set to Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related\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. \nSources: Expert list",
"entity_name": "ELL3",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:25:59.507118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHEK1 as ready",
"entity_name": "CHEK1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:25:59.496783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chek1 has been classified as Green List (High Evidence).",
"entity_name": "CHEK1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:25:51.441336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHEK1 as Green List (high evidence)",
"entity_name": "CHEK1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:25:51.431769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chek1 has been classified as Green List (High Evidence).",
"entity_name": "CHEK1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:25:27.089405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHEK1 was added\ngene: CHEK1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CHEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHEK1 were set to 33953335; 33948904\nPhenotypes for gene: CHEK1 were set to Oocyte/zygote/embryo maturation arrest 21, MIM# 620610\nReview for gene: CHEK1 was set to GREEN\nAdded comment: Literature in OMIM- PMID: 33953335; 33948904\r\n- >3 unrelated with infertility due to zygote/embryo cleavage arrest with three different missense variants and 1 1bp deletion. Functional studies using transfection studies showed that all mutant increased cytoplasmic localization significantly greater kinase activity. Injection of all mutant cRNA into mouse zygotes with 2 distinct pronuclei also resulted in significantly decreased cleavage rates compared to wildtype. \nSources: Expert list",
"entity_name": "CHEK1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:23:32.378249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC25A as ready",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:23:32.368149+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc25a has been classified as Green List (High Evidence).",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:23:24.156140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC25A as Green List (high evidence)",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:23:24.149534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc25a has been classified as Green List (High Evidence).",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:23:11.298820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC25A was added\ngene: CDC25A was added to Mendeliome. 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, MONDO:0004983, CDC25A-related\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": "2025-07-29T14:21:32.567634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPS as ready",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:21:32.556812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caps has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:21:26.093116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPS as Amber List (moderate evidence)",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:21:26.083658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caps has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:21:09.526427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAPS was added\ngene: CAPS was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CAPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPS were set to 30339840\nPhenotypes for gene: CAPS were set to Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CAPS-related\nReview for gene: CAPS was set to AMBER\nAdded comment: PMID: 30339840- Homozygous p.L127Wfs in a consanguineous family of 3 sisters with unexplained RPL. In vitro study also showed that mRNA expression of CAPS was downregulated in decidual and placental villous tissues of RPL patients, and CAPS expression in CAPS–homo-919–transfected cells showed a significant decrease compared with the other groups. Transwell assay with Matrigel also revealed that CAPS–homo-919 could affect JAR cell invasion compared with NC (P < 0.01), which might impair trophoblast infiltration ability. An enzyme-linked immunosorbent assay showed that CAPS–homo-919 could induce a dramatic increase in PGE2 release from the RL95-2 cells (P < 0.05), compared with NC. \nSources: Expert list",
"entity_name": "CAPS",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:18:57.594340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C4BPA as ready",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:18:57.584352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c4bpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:18:44.121274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C4BPA as Amber List (moderate evidence)",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:18:44.114910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c4bpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:18:29.969901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C4BPA was added\ngene: C4BPA was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C4BPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C4BPA were set to 23508668\nPhenotypes for gene: C4BPA were set to recurrent pregnancy loss susceptibility MONDO:0000144, C4BPA-related\nReview for gene: C4BPA was set to AMBER\nAdded comment: PMID: 23508668- Five unrelated female with history of recurrent RPL (<10 weeks) carrying het missnese variants (See table 3- G423E, R120H, I126T, P4Q).\r\n- The I126T mutation in CCP2 of C4BP α-chain is of particular interest as it was found only in one patient but not in healthy controls. This rare mutation affected both expression level of C4BP α-chain as well as its function, i.e., degradation of C4b and C3b in solution.\r\nR120H, found in two patients and no controls, increased the ability of C4BP to act as cofactor in degradation of C4b but decreased its activity in degradation of C3b both in solution and deposited on the cell surface. The other 2 variants have been observed in controls.\r\n- Homozygous C4BP knockout mice often die during second or third pregnancy (unpublished observation). This would imply a pivotal role of this protein in maintenance of successful pregnancy, although the mechanism is not known. \nSources: Expert list",
"entity_name": "C4BPA",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:15:19.502217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C11orf80 as ready",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:15:19.488809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c11orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:15:11.769968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C11orf80 as Amber List (moderate evidence)",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:15:11.755413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c11orf80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:14:59.659249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C11orf80.",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:14:49.795432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C11orf80 was added\ngene: C11orf80 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C11orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C11orf80 were set to 30388401; 36732965\nPhenotypes for gene: C11orf80 were set to Recurrent hydatidiform mole 4, MIM # 618432\nReview for gene: C11orf80 was set to AMBER\nAdded comment: Note: HGNC Approved Gene Symbol- TOP6BL\r\n\r\nLiterature in OMIM- PubMed: 30388401- Two unrelated females with RHMs carrying a homozygous p.Glu262∗ and p.Ser501Pro, respectively.\r\n\r\nNew paper (biallelic variants for OZEMA/NOA)\r\ni) PMID: 36732965- A homozygous LOF p.E162* in four infertile siblings born to a consanguineous marriage, with three brothers suffering from non-obstructive azoospermia and one sister suffering from unexplained infertility. Mouse models carrying similar mutations to that in patients recapitulated the spermatogenic abnormalities of the patient. \nSources: Expert list",
"entity_name": "C11orf80",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:08:53.655251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCORL1 were changed from Shukla-Vernon syndrome, MIM#301029 to Shukla-Vernon syndrome, MIM#301029; Spermatogenic failure, MONDO:0004983, BCORL1-related",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:08:36.519728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCORL1 were set to 24123876; 30941876",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:08:21.007902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCORL1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:08:04.404763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCORL1 as Green List (high evidence)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:08:04.394438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Green List (High Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:07:48.826888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BCORL1: Added comment: Association with spermatogenic failure:\r\n\r\ni) 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.; Changed rating: GREEN; Changed publications: 24123876, 30941876, 38342987, 32376790, 39267058, 39189935; Changed phenotypes: Shukla-Vernon syndrome, MIM#301029, Spermatogenic failure, MONDO:0004983, BCORL1-related",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:06:48.996316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Classified as LIMITED by ClinGen.; to: Classified as LIMITED by ClinGen, Shukla-Vernon syndrome, MIM#301029",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:04:38.328735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASTL were set to 34704130",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:04:19.746834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASTL as Green List (high evidence)",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:04:19.736317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: astl has been classified as Green List (High Evidence).",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:03:52.370643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTL: Changed rating: GREEN",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:03:43.993804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTL: Added comment: New papers (biallelic variants)\r\ni) PMID: 37640117 - Novel compound heterozygous missense variants (p.Arg117Cys and p.Arg274Trp) in a Chinese woman with primary infertility and polyspermy in IVF. Moreover, transfection studies using CHO-K1 cells indicated that mutant cells showed abnormal ovastacin zymogen activation or decreased enzyme stability.\r\n\r\nii) PMID: 37133443- Biallelic variants in four independent affected individuals with primary infertility. The frameshift variants significantly decreased the quantity of ASTL protein in vitro. And all missense variants affected the enzymatic activity that cleaves ZP2 in mouse egg in vitro. Three knock-in female mice (corresponding to three missense variants in patients) all show subfertility due to low embryo developmental potential.; Changed publications: 34704130, 37640117, 37133443; Changed phenotypes: Oocyte maturation defect 11, MIM# 619643",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:02:20.312110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTL7A as ready",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:02:20.301702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actl7a has been classified as Green List (High Evidence).",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:01:51.990093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTL7A as Green List (high evidence)",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:01:51.983104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actl7a has been classified as Green List (High Evidence).",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:01:39.499182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTL7A was added\ngene: ACTL7A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ACTL7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACTL7A were set to 32923619; 34727571; 36593593; 37004249; 37991128; 36574082; 35921706\nPhenotypes for gene: ACTL7A were set to Spermatogenic failure 86, #MIM 620499\nReview for gene: ACTL7A was set to GREEN\nAdded comment: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men\r\n\r\nOther papers:\r\ni) PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic.The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting.\r\n\r\nii)PMID: 36574082 (2023)- Two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.\r\n\r\niii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice. \nSources: Expert list",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-29T07:33:50.985325+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-07-28T11:39:02.966953+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARK2 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal dominant 76, MIM# 621285",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:38:33.796462+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MARK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 76, MIM# 621285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:38:14.791575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARK2 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal dominant 76, MIM# 621285",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:37:45.610140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MARK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 76, MIM# 621285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:37:23.540953+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARK2 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal dominant 76, MIM# 621285",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:37:03.473666+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MARK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 76, MIM# 621285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:36:43.847634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARK2 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal dominant 76, MIM# 621285",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-28T11:36:13.820441+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MARK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 76, MIM# 621285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2025-07-26T08:04:45.340104+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.4",
"user_name": "David Eckstein",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to PMID: 24305960\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, MIM#275350\nPenetrance for gene: TCN2 were set to Complete\nReview for gene: TCN2 was set to GREEN\nAdded comment: Well established gene-disease association https://medlineplus.gov/genetics/condition/transcobalamin-deficiency/\r\n\r\nHaploinsufficiency Score = 30 https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11653 \r\n\r\nTranscobalamin II deficiency (TCN2D) is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities or death (1). \r\n\r\nDiagnosis: Diagnosis is based on laboratory findings showing pancytopenia (or isolated megaloblastic anemia or combined anemia and leucopenia) and accumulation of homocysteine and methylmalonic acid. Methionine concentration may be reduced. Serum cobalamin levels are typically not low (most circulating cobalamin bound to haptocorrin). Reduction of unsaturated B12 binding capacity (test must be carried out before starting treatment with vitamin B12) and Holo- TC levels are observed. Diagnosis is confirmed by quantification of total transcobalamin in serum or plasma or by genetic screening of TCN2. Postnatal diagnosis may be achieved by screening newborn serum by tandem mass spectroscopy to detect the presence of C3-carnitines derived from methylmalonic acid. (Orphanet https://www.orpha.net/en/disease/detail/859#) \r\n\r\nTreatment: Multiple case reports indicate good therapeutic effects from Vitamin B12 administration (2, 3). The BNF recommends hydroxocobalamin vs cyanocobalamin for this lifelong treatment*. Orphanet indicates that (t)reatment of TC involves maintenance of a very high serum cobalamin concentration (1,000-10,000 pg/ml) by intramuscular (IM) administration of hydroxocobalamin. Oral treatment or treatment with cyanocobalamin instead of hydroxocobalamin may result in poorer outcomes. Treatment with IM hydroxocobalamin at least once a week is recommended, with monitoring of biochemical and hematological parameters to ensure that treatment is effective. Follow-up into adulthood for asymptomatic children who continue to have abnormal metabolite excretion is recommended. (Orphanet https://www.orpha.net/en/disease/detail/859#) \r\n\r\n* this was cited in a BMJ article https://www.bmj.com/content/349/bmj.g5389.full but I can’t access the BNF to provide a direct citation.\r\n\r\nIncluded in BabyScreen+, BeginNGS, Guardian, Generation, EarlyCheck\r\n\r\nPanels with this gene\r\n•\tBone Marrow Failure\r\n•\tMendeliome\r\n•\tCombined Immunodeficiency\r\n•\tIntellectual disability syndromic and non-syndromic\r\n•\tMackenzie's Mission_Reproductive Carrier Screening\r\n•\tRed cell disorders\r\n•\tFetal anomalies\r\n•\tPrepair 1000+\r\n•\tGenomic newborn screening: BabyScreen+\r\n•\tPrepair 500+\r\n•\tVitamin metabolism disorders\r\n•\tGenomic newborn screening: ICoNS\r\n\r\nFull citations\r\n1. https://www.omim.org/entry/275350?search=%22transcobalamin%20ii%20deficiency%22&highlight=%22transcobalamin%20ii%20deficiency%22#8\r\n\r\n2. Martino, F., Magenta, A., Troccoli, M.L. et al. Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report. Ital J Pediatr 47, 54 (2021). https://doi.org/10.1186/s13052-021-01007-6\r\n\r\n3. Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May;37(3):461-73. doi: https://doi.org/10.1007/s10545-013-9664-5. Epub 2013 Dec 5. PMID: 24305960. \nSources: Expert list",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2025-07-25T16:25:38.878220+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: ZNF597: Changed publications: 19968752, 28157578, 32576657",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-25T16:24:26.796051+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ZNF597 was added\ngene: ZNF597 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature,Research\nMode of inheritance for gene: ZNF597 was set to Other\nPublications for gene: ZNF597 were set to 28157578; 28157578; 2576657\nMode of pathogenicity for gene: ZNF597 was set to Other\nReview for gene: ZNF597 was set to RED\nAdded comment: ZNF597 is an imprinted gene- maternally expressed and paternally imprinted. \r\n- ZNF597 is highly expressed in the placenta and proposed to have an important role in placental development. \r\n- Knockout ZNF597 mice (homozygous -/-) is embryonic lethal due to failed embryonic organization before cardiogenesis at embryonic day 7.5. This period is equivalent to human Carnegie Stage 9 that occurs during week 3 between 19 to 21 days (5 weeks' gestation).\r\n- Literature associated with ZNF597 including maternal uniparental disomy of chromosome 16 (UPD(16)mat) or loss of paternal imprinting of ZNF59, resulting in an overexpression of ZNF597.\r\n- Unpublished in-house data/observation: A heterozygous deletion with a breakpoint in ZNF597 was observed in the female partner of a couple experiencing x4 early pregnancy loss at 5-8 weeks' gestation. \nSources: Literature, Research",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-25T14:12:41.709363+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-07-25T14:01:23.074217+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Infertility and Pregnancy Loss to Infertility and Recurrent Pregnancy Loss\nPanel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-07-25T13:23:39.312361+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP14 as ready",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:23:39.305626+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:23:37.047247+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP14 were changed from Oocyte maturation defect and early embryo arrest to Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:21:15.853065+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:21:15.840835+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:21:13.302301+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALT were changed from Premature ovarian failure to Galactosaemia, MIM# 230400; Premature ovarian failure",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:58.848743+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:58.841743+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:53.331634+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3B as Green List (high evidence)",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:53.324937+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:30.348035+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:30.341556+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:27.904481+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from Premature ovarian failure to POLG-related disorders; Premature ovarian failure",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:00.428732+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Green List (high evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:19:00.422171+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:18:40.914475+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFR as ready",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:18:40.893356+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:18:35.962490+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTHFR were changed from Recurrent pregnancy loss susceptibility to Homocystinuria due to MTHFR deficiency MIM#236250; Recurrent pregnancy loss susceptibility",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:18:13.354654+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFR as Amber List (moderate evidence)",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:18:13.343921+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:17:51.793359+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:17:51.786316+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:17:49.349857+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from Female infertility, premature ovarian insufficiency to Laminopathy; Female infertility, premature ovarian insufficiency",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:17:04.793865+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNA as Green List (high evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:17:04.770720+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:16:42.309897+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:16:42.300469+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:16:37.166880+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKBKG as Green List (high evidence)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-07-25T13:16:37.156042+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
}
]
}