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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=256",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=254",
"results": [
{
"created": "2025-04-24T19:00:33.265835+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-04-24T19:00:25.397078+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:57:21.835815+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"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": "2025-04-24T18:56:37.750237+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1B as ready",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:56:37.740797+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been classified as Green List (High Evidence).",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:56:32.072429+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN1B as Green List (high evidence)",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:56:32.065419+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been classified as Green List (High Evidence).",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:55:59.943543+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1D as ready",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:55:59.936616+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1d has been classified as Red List (Low Evidence).",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:55:53.552450+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:55:44.935117+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1D as Red List (low evidence)",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:55:44.925655+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1d has been classified as Red List (Low Evidence).",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:55:35.444529+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 2 MIM#613717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:54:18.403894+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLE as ready",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:54:18.397375+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:54:14.521593+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLE as Green List (high evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:54:14.513934+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:47.439558+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXCT1 as Green List (high evidence)",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:47.429821+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxct1 has been classified as Green List (High Evidence).",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:26.344876+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:26.335155+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:23.281529+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Spastic paraplegia 83, autosomal recessive MIM#619027; Leigh syndrome MONDO:0009723",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:12.973487+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:53:12.966617+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:52:44.937745+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLAT as Green List (high evidence)",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:52:44.929997+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlat has been classified as Green List (High Evidence).",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:52:20.781442+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from to Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:52:10.905670+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DBR1 were set to ",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:51:59.570712+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DBR1 as Green List (high evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:51:59.563857+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:51:25.633556+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from Fanconi Anaemia to Fanconi Anaemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:51:13.938126+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRIP1 as Red List (low evidence)",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:51:13.928948+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Red List (Low Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:51:04.405487+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRIP1: Added comment: Consider for inclusion in V3 together with all FA genes.; Changed rating: RED; Changed phenotypes: Fanconi Anaemia, complementation group J, MIM# 609054; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:44:13.435245+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MBTPS1.",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:40:46.416688+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "CANVAS was changed to RFC1_CANVAS_ AAGGG",
"entity_name": "RFC1_CANVAS_ AAGGG",
"entity_type": "str"
},
{
"created": "2025-04-24T18:40:05.125845+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "BPES was changed to FOXL2_BPES_GCN",
"entity_name": "FOXL2_BPES_GCN",
"entity_type": "str"
},
{
"created": "2025-04-24T18:24:50.880672+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CYP19A1 was added\ngene: CYP19A1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP19A1 were set to 32318648\nPhenotypes for gene: CYP19A1 were set to Aromatase deficiency, MIM# 613546\nReview for gene: CYP19A1 was set to GREEN\nAdded comment: Primary amenorrhea (feature of POI) and hypergonadotropic hypogonadism are observed in the presence of aromatase deficiency.\r\n\r\nNew papers:\r\ni) PMID: 32318648- Novel biallelic CYP19A1 variants in 4 girls manifesting either at birth with atypical genitalia or puberty with poor breast development, clitoromegaly, abnormal menstrual bleeding, polycystic ovaries, and ovarian torsion. All variants except one missense showed a LOF. Protein structure and dynamics studies were in line with functional assays. The 2 female patients with delins variants manifested with ambiguous genitalia at birth. Histologic investigation revealed normal ovarian tissue on one side and a streak gonad on the other. Two female patients presented with abnormal pubertal development and polycystic ovaries. \nSources: Literature",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:20:04.273408+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Primary amenorrhea is a feature of POI/POF- Literature in OMIM- PubMed: 15811924- homozygous truncating p.Y27X in a 20-yr-old female Turkish patient (46,XX) presented with primary amenorrhea, sexual infantilism, and easy fatigability. The patient's steroid metabolism showed increased levels of mineralocorticoid precursors and low or undetectable plasma concentrations of 17-alpha-hydroxycorticoids, androgens, and estrogens before and after ACTH stimulation. \r\n\r\nNew papers reported female with primary infertility (PI): \r\ni) PMID: 36385415-reported a case (C29) with PI and recurrent implantation failure (RIF) carrying a homozygous missense p.Arg496His called likely pathogenic.\r\n\r\nii) PMID: 39039557- Two Caucasian Israeli-Arab females with PI carrying homozygous missense P.Arg496Cys. \nSources: Literature; to: Primary amenorrhea is a feature of POI/POF, which is present in 17-alpha-hydroxylase/17,20-lyase deficiency.\r\n\r\nLiterature in OMIM- PubMed: 15811924- homozygous truncating p.Y27X in a 20-yr-old female Turkish patient (46,XX) presented with primary amenorrhea, sexual infantilism, and easy fatigability. The patient's steroid metabolism showed increased levels of mineralocorticoid precursors and low or undetectable plasma concentrations of 17-alpha-hydroxycorticoids, androgens, and estrogens before and after ACTH stimulation. \r\n\r\nNew papers reported female with primary infertility (PI): \r\ni) PMID: 36385415-reported a case (C29) with PI and recurrent implantation failure (RIF) carrying a homozygous missense p.Arg496His called likely pathogenic.\r\n\r\nii) PMID: 39039557- Two Caucasian Israeli-Arab females with PI carrying homozygous missense P.Arg496Cys. \r\nSources: Literature",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:19:01.625903+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CYP17A1 was added\ngene: CYP17A1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110\nReview for gene: CYP17A1 was set to GREEN\nAdded comment: Primary amenorrhea is a feature of POI/POF- Literature in OMIM- PubMed: 15811924- homozygous truncating p.Y27X in a 20-yr-old female Turkish patient (46,XX) presented with primary amenorrhea, sexual infantilism, and easy fatigability. The patient's steroid metabolism showed increased levels of mineralocorticoid precursors and low or undetectable plasma concentrations of 17-alpha-hydroxycorticoids, androgens, and estrogens before and after ACTH stimulation. \r\n\r\nNew papers reported female with primary infertility (PI): \r\ni) PMID: 36385415-reported a case (C29) with PI and recurrent implantation failure (RIF) carrying a homozygous missense p.Arg496His called likely pathogenic.\r\n\r\nii) PMID: 39039557- Two Caucasian Israeli-Arab females with PI carrying homozygous missense P.Arg496Cys. \nSources: Literature",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:09:52.410751+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AIRE were set to 39318439; 38808199; 30150985\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, MIM# 240300\nReview for gene: AIRE was set to GREEN\nAdded comment: Hypogonadism in both males and females\r\n\r\nNew papers reporting biallelic variants in affected females with POI as part of the clinical manifestation of Autoimmune Polyglandular Syndrome 1- PMID: 39318439; 38808199; 30150985 \nSources: Literature",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:07:05.938029+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: LHCGR: Changed publications: 10714363, 8559204, 21683950, 39162678, 37462066, 32860205, 29912377, 30016538",
"entity_name": "LHCGR",
"entity_type": "gene"
},
{
"created": "2025-04-24T18:06:24.358332+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: LHCGR was added\ngene: LHCGR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: LHCGR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LHCGR were set to 10714363, 8559204, 21683950; 39162678; 37462066; 32860205; 29912377; 30016538\nPhenotypes for gene: LHCGR were set to Luteinizing hormone resistance, female/ Leydig cell hypoplasia with pseudohermaphroditism/ Leydig cell hypoplasia with hypergonadotropic hypogonadism, MIM# 238320\nReview for gene: LHCGR was set to GREEN\nAdded comment: Literature in OMIM- PMID:10714363, 8559204, 21683950\r\n\r\nNew papers: \r\ni) PMID: 39162678- most recent review paper on LHCGR inactivating variants and reported phenotypes for affected males and females- oligoazoospermia and infertility with arrested spermatogenesis observed in some male patients and oligo-amenorrhea, anovulatory infertility, and failure of oocyte retrieval with hCG treatment despite multi-follicular development on ovulation induction in almost all females\r\n\r\nii)PMID: 37462066, PMID: 32860205, PMID: 29912377- novel biallelic variants in affected females with with empty follicle syndrome\r\n\r\niii) PMID: 30016538- homozygous truncating variant associated with primary ovarian insufficiency \r\n\r\nNote: strong evidence for Oocyte/zygote/embryo maturation arrest (OZEMA) and moderate evidence for POI in FeRGI database. \nSources: Literature",
"entity_name": "LHCGR",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:19:13.719168+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: ITGA3.",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:17:56.847238+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: IGHM.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:14:32.859222+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: ERBB3.",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:06:31.667381+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag review was removed from gene: TSPYL1.",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:05:43.449382+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: TTN.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:04:13.766490+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: CERKL.",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:03:49.513889+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: CLN3.",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:03:05.796451+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: LRSAM1.",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:02:34.945856+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: NCF1.",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:02:07.415469+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: RARB.",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:01:43.847138+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: SLC9A3.",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:01:28.160413+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag review was removed from gene: FYCO1.",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T16:00:27.034768+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: PRICKLE1.",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:59:39.017027+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TSPYL1 as Green List (high evidence)",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:59:39.013790+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Assessed, meets conditions as additional non-founder variants identified",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:59:38.989930+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2146",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tspyl1 has been classified as Green List (High Evidence).",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:58:08.488780+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: B9D1.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:57:06.268511+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:31.833163+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ACY1.",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:13.198790+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Classified gene: PEX19 as Green List (high evidence)",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:13.192915+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:12.676783+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SCO1 as Green List (high evidence)",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:12.667540+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2145",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sco1 has been classified as Green List (High Evidence).",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:06.341907+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO1 as ready",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:06.335157+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo1 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:04.962954+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2144",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: SCO1.",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:02.468273+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIEZO1 as Green List (high evidence)",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:56:02.460124+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo1 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:56.035654+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PIEZO1.",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:25.653102+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDHX as Green List (high evidence)",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:25.641298+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:25.181575+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2143",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: OTULIN as Green List (high evidence)",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:25.173657+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2143",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:19.905597+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PDHX.",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:55:14.590023+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2142",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: OTULIN.",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:54:36.736276+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTPAP as Green List (high evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:54:36.727553+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Green List (High Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:54:35.866272+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2142",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Classified gene: CHMP1A as Green List (high evidence)",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:54:35.859896+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2142",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Green List (High Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:54:30.473239+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:54:28.587334+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review was removed from gene: CHMP1A.",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:53:27.310681+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2141",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: APC2 as Green List (high evidence)",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:53:27.304331+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2141",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: apc2 has been classified as Green List (High Evidence).",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:53:18.432253+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2140",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: APC2.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:53:16.297775+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMN as ready",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:53:16.292116+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Treatable, relatively mild disorder, not suitable for inclusion on a reproductive carrier screen.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:53:16.267802+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amn has been classified as Red List (Low Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:52:38.372719+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMN as Red List (low evidence)",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:52:38.362599+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amn has been classified as Red List (Low Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:52:31.070135+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AMN.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:39.491167+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGTR1 as Green List (high evidence)",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:39.484031+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtr1 has been classified as Green List (High Evidence).",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:37.480042+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review was removed from gene: YIF1B.",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:33.960931+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: YIF1B as Green List (high evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:33.953909+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:33.423793+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AGTR1.",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2025-04-24T15:51:08.696096+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRC2 as ready",
"entity_name": "UQCRC2",
"entity_type": "gene"
}
]
}