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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=283",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=281",
"results": [
{
"created": "2025-03-24T13:27:20.514035+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IVD were set to ",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:26:46.682786+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQCB1 as ready",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:26:46.670982+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqcb1 has been classified as Green List (High Evidence).",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:23:56.218631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5, 609254 (3) to Senior-Loken syndrome 5 MIM#609254",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:23:46.468016+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQCB1 were set to ",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:23:19.134850+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INSR as ready",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:23:19.124402+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Green List (High Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:23:16.818864+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from Leprechaunism, 246200 (3) to Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome MIM#262190",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:23:06.070459+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INSR were set to ",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:22:25.937529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNGR1 as ready",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:22:25.929817+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifngr1 has been classified as Green List (High Evidence).",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:22:22.851624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNGR1 were changed from Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) to Immunodeficiency 27A, mycobacteriosis, MIM#209950",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:22:10.702239+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNGR1 were set to ",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:21:39.268470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IER3IP1 as ready",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:21:39.259038+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ier3ip1 has been classified as Green List (High Evidence).",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:21:36.677962+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:20:47.128779+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPD as ready",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:20:47.119151+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpd has been classified as Green List (High Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:20:44.637261+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPD were changed from Tyrosinemia, type III, 276710 (3) to Tyrosinemia, type III, MIM#276710",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:20:34.086300+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPD were set to ",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:20:12.021436+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29456978; Phenotypes: Tyrosinemia, type III, MIM#276710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:15:19.991657+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCL as ready",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:15:19.985202+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:15:16.784673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 (3) to HMG-CoA lyase deficiency, MIM# 246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:14:31.807279+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HBB.",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:14:09.607404+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:14:09.600294+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:14:06.657525+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHA were changed from Fatty liver, acute, of pregnancy, 609016 (3) to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency 1 MIM#609015",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:13:31.900608+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:13:31.893880+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:13:29.055055+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, 616198 (3) to Combined oxidative phosphorylation deficiency 23 MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:13:18.021265+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTPBP3 were set to ",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:12:43.866168+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTG as ready",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:12:43.855201+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptg has been classified as Green List (High Evidence).",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:12:40.907994+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma, 252605 (3) to Mucolipidosis III gamma, MIM# 252605",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:12:30.621235+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPTG were set to ",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:57.113685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLE1 as ready",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:57.107655+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gle1 has been classified as Green List (High Evidence).",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:48.306418+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLE1 were changed from Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) to Congenital arthrogryposis with anterior horn cell disease, MIM #611890; Lethal congenital contracture syndrome 1, MIM #253310",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:37.692988+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLE1 were set to ",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:04.716041+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDI1 as ready",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:04.709524+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdi1 has been classified as Green List (High Evidence).",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:11:02.367389+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDI1 were changed from Mental retardation, X-linked 41, 300849 (3) to Intellectual developmental disorder, X-linked 41, MIM #300849",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:10:51.866033+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDI1 were set to ",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:10:23.118885+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF1 as ready",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:10:23.112476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf1 has been classified as Green List (High Evidence).",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:10:20.252239+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF1 were set to ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:10:09.727519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 (3) to Congenital heart defects, multiple types, 6 MIM#613854; Right atrial isomerism (Ivemark), MIM #208530",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:08:37.328699+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDAP1 as ready",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:08:37.321464+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdap1 has been classified as Green List (High Evidence).",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:08:33.377889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) to Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:08:02.325759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDAP1 were set to ",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:07:03.409373+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS8 as ready",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:07:03.399873+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas8 has been classified as Green List (High Evidence).",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:06:24.392399+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS8 were changed from Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive to Ciliary dyskinesia, primary, 33 MIM#616726",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2025-03-24T13:06:14.505412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS8 were set to ",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:59:19.038649+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLC4 was added\ngene: KLC4 was added to Regression. Sources: Literature\nMode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC4 were set to 26423925\nPhenotypes for gene: KLC4 were set to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129\nReview for gene: KLC4 was set to RED\nAdded comment: Single family reported with three affected sibs, homozygous variant. \nSources: Literature",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:57:51.739082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KLC4: Changed phenotypes: Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:56:19.413920+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC2 were set to 26843489; 31628467",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:56:00.507204+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC2 as Amber List (moderate evidence)",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:56:00.499243+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:55:45.676831+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC2: Added comment: LIMITED by ClinGen. Two additional patients reported but again, predominantly missense variants.; Changed publications: 26843489, 31628467, 36344539, 36069504",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:55:12.521395+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC2 were set to 26843489; 31628467",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:54:41.880440+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC2: Added comment: LIMITED by ClinGen. Two additional patients reported but again, predominantly missense variants.; Changed rating: AMBER; Changed publications: 26843489, 31628467, 36344539, 36069504",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:53:57.871295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen; to: LIMITED by ClinGen. Two additional patients reported but again, predominantly missense variants.",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:53:30.466023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC2: Changed publications: 26843489, 31628467, 36344539, 36069504",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:52:30.929062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: EXOSC2: LIMITED by ClinGen",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:50:54.694010+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A5 as Amber List (moderate evidence)",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:50:54.685949+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:50:29.669201+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:50:03.611669+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A4 as Amber List (moderate evidence)",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:50:03.604593+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:49:37.807280+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:49:07.511459+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A3 as Amber List (moderate evidence)",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:49:07.502527+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-03-24T12:48:40.309372+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome MONDO:0018965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2025-03-21T18:23:06.974528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM1 were changed from intellectual disability; congenital abnormalities to neurodevelopmental disorder MONDO:0700092, LSM1-related",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2025-03-21T08:35:51.931759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2385",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LSM1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092; Mode of inheritance: None",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2025-03-20T17:08:10.316701+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.\r\nHomozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.\r\n\r\nNephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit JATD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.; to: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.\r\nHomozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.\r\n\r\nNephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit SRTD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-03-20T17:03:59.952070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: TTC21B: Changed phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819, Nephronophthisis 12, MIM #613820",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-03-20T17:02:05.902190+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.\r\nHomozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.; to: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.\r\nHomozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.\r\n\r\nNephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit JATD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2025-03-20T16:57:47.982489+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "edited their review of gene: TRIP11: Changed phenotypes: Achondrogenesis, type IA, MIM #200600, Odontochondrodysplasia 1, MIM #184260",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2025-03-20T16:04:39.020869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2385",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RP9: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008710; Phenotypes: retinitis pigmentosa 9 MONDO:0008378; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RP9",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:58:13.518200+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DBR1 as ready",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:58:13.512740+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Green for the immune condition in OMIM Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510 although evidence is from a single paper but includes 4 unrelated families, 2 papers regarding encephalopathy, again enough evidence for inclusion >3 unrelated families. \r\n\r\nUPGRADE TO GREEN",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:58:13.471836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dbr1 has been removed from the panel.",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:48:01.847986+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AMN as ready",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:48:01.844930+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Treatable disorder with good outcomes",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:48:01.821496+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: amn has been removed from the panel.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:47:48.580811+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1611",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AMN were set to ",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:43:26.644518+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1610",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:43:26.634436+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1610",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:43:23.701534+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1610",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780 (3) to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:42:54.203784+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1609",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to ",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:42:17.714440+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:42:17.704425+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:42:14.231461+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1608",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FAH were set to ",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:41:25.781021+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1607",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FAM126A as ready",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:41:25.774705+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1607",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Green List (High Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2025-03-20T15:41:21.964842+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1607",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FAM126A were set to ",
"entity_name": "FAM126A",
"entity_type": "gene"
}
]
}