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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=317",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=315",
"results": [
{
"created": "2024-12-27T16:11:28.671939+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:11:28.651914+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Green List (High Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:11:24.460118+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:11:05.099138+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:10:40.730962+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCLN as ready",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:10:40.720494+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocln has been classified as Green List (High Evidence).",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:10:37.960620+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria, 251290 (3) to Pseudo-TORCH syndrome 1, MIM#251290",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:10:08.808563+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCLN were set to ",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:09:37.476968+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:09:07.262520+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGO as ready",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:09:07.251481+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigo has been classified as Green List (High Evidence).",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:09:04.139969+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, 614749 (3) to Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:08:43.057994+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGO were set to ",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:08:17.617036+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX10 as ready",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:08:17.608308+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Green List (High Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:08:14.087116+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX10 were changed from Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:08:02.903892+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX10 were set to ",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:07:36.557460+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1C as ready",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:07:36.545336+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1c has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:07:32.841573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, 602450 (3) to Severe combined immunodeficiency, Athabascan type, MIM# 602450; Omenn syndrome, MIM# 603554",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:07:20.377529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1C were set to ",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:05:49.359697+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROP1 as ready",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:05:49.348314+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prop1 has been classified as Green List (High Evidence).",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:05:42.792756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2, 262600 (3) to Pituitary hormone deficiency, combined, 2, MIM#262600",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:05:12.557171+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK6 as ready",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:05:12.542407+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock6 has been classified as Green List (High Evidence).",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:05:09.031826+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK6 were set to ",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:44.801291+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELP2 as ready",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:44.779870+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp2 has been classified as Green List (High Evidence).",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:41.238956+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELP2 were changed from Mental retardation, autosomal recessive 58, 617270 (3) to Intellectual developmental disorder, autosomal recessive 58, MIM# 617270",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:27.234952+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELP2 were set to ",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:04.582225+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:04.564883+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:04:01.482985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) to Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:03:49.189748+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMD were set to ",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:03:21.983884+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFB as ready",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:03:21.973065+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfb has been classified as Green List (High Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:03:18.548929+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, MIM# 231680 to Glutaric acidaemia IIB, MIM# 231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:03:09.865660+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, 231680 (3) to Glutaric acidemia IIB, MIM# 231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:02:58.541065+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETFB were set to ",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:02:48.329110+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.904",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27122014, 27616477, 31758406, 34678889, 35637064, 39455596; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM #617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:02:18.417086+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL4 as ready",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:02:18.404947+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl4 has been classified as Green List (High Evidence).",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:02:15.364199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:02:02.818019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXL4 were set to ",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:01:40.721615+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:01:40.708012+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:01:11.658354+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from Fumarase deficiency, 606812 (3) to Fumarase deficiency, MIM# 606812",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:00:40.229817+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FH were set to ",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:00:16.058008+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXRED1 as ready",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:00:16.040679+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxred1 has been classified as Green List (High Evidence).",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:00:12.890217+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXRED1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:00:00.513345+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXRED1 were set to ",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:59:35.849593+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA2 as ready",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:59:35.835126+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba2 has been classified as Green List (High Evidence).",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:59:32.854181+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409 (3) to Spastic paraplegia 46, autosomal recessive, MIM# 614409",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:59:20.978432+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBA2 were set to ",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:58:55.951362+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUSB as ready",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:58:55.942304+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gusb has been classified as Green List (High Evidence).",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:58:45.818376+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII, 253220 (3) to Mucopolysaccharidosis VII, MIM# 253220",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:58:34.394642+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUSB were set to ",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:57:13.762703+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS6 as ready",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:57:13.750137+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps6 has been classified as Green List (High Evidence).",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:57:10.065673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6, 614075 (3) to Hermansky-Pudlak syndrome 6, MIM# 614075",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:56:51.666894+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS6 were set to ",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:56:38.289630+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:46:51.244387+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301503, 12555939, 15714522, 9501215; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-12-27T15:18:31.792381+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18485326, 15122512, 20301771; Phenotypes: Spondylocostal dysostosis 2, MIM #608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:07:20.055695+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P2RY8 as ready",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:07:20.045663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2ry8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:07:11.092032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: P2RY8 as Amber List (moderate evidence)",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:07:11.082847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2ry8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:06:52.829031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P2RY8 was added\ngene: P2RY8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: P2RY8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P2RY8 were set to 34889940\nPhenotypes for gene: P2RY8 were set to Systemic lupus erythematosus, MONDO:0007915, P2RY8-related\nReview for gene: P2RY8 was set to AMBER\nAdded comment: One de novo variant, p.Leu257Phe, absent from gnomAD v4 identified in an individual with early-onset SLE.\r\n\r\nSubsequent search for additional individuals in large cohorts identified:\r\np. Asn97Lys, inherited from mother, present in 19 individuals in gnomADv4.\r\np.Glu323Gly identified in 6 Chinese individuals, inheritance not determined, present in 51 individuals in gnomADv4.\r\n\r\nFunctional data support the role of the gene in immune tolerance. Role in contributing to the development of SLE is plausible, though not necessarily under a monogenic model. \nSources: Literature",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:04:34.755493+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P2RY8 as ready",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:04:34.738865+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2ry8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:04:31.927037+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P2RY8 were changed from systemic lupus erythematosis; vasculitis; nephritis to Systemic lupus erythematosus, MONDO:0007915, P2RY8-related",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:03:23.076812+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: P2RY8 as Amber List (moderate evidence)",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:03:23.054158+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2ry8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:02:49.342332+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: P2RY8: Changed phenotypes: Systemic lupus erythematosus, MONDO:0007915, P2RY8-related",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T14:02:17.738142+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P2RY8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "P2RY8",
"entity_type": "gene"
},
{
"created": "2024-12-27T13:24:47.130856+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15654338, 34271604, 38796770, 36777708, 30817990; Phenotypes: Glucocorticoid deficiency 2, MIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2024-12-27T13:05:14.474669+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38796770, 8094489, 8227361, 35506146; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2024-12-27T12:39:19.625480+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23097495, 27616480, 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: Intellectual developmental disorder, autosomal recessive 57, MIM #617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:52:16.531749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACSIN1 as ready",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:52:16.520371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin1 has been classified as Red List (Low Evidence).",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:51:59.686744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PACSIN1 was added\ngene: PACSIN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PACSIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PACSIN1 were set to 36622335\nPhenotypes for gene: PACSIN1 were set to Systemic lupus erythematosus, MONDO:0007915, PACSIN1-related\nReview for gene: PACSIN1 was set to RED\nAdded comment: Single individual with de novo missense variant reported, supportive functional data. \nSources: Literature",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:43:52.167178+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACSIN1 as ready",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:43:52.155568+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin1 has been classified as Red List (Low Evidence).",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:43:44.163550+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PACSIN1 as Red List (low evidence)",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:43:44.145192+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin1 has been classified as Red List (Low Evidence).",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-27T10:43:11.557098+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACSIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PACSIN1",
"entity_type": "gene"
},
{
"created": "2024-12-24T17:04:22.980087+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23636941, 20381006, 23664847, 30041615; Phenotypes: Cenani-Lenz syndactyly syndrome, MIM #212780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2024-12-24T16:33:12.790995+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12966029, 19067344, 21248746, 17436019, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:23:22.894611+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY2D as ready",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:23:22.875851+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2d has been classified as Green List (High Evidence).",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:23:20.126686+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY2D were changed from Leber congenital amaurosis 1, 204000 (3) to Leber congenital amaurosis 1, MIM#204000",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:23:09.923153+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCY2D were set to ",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:22:37.476144+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTEL1 as ready",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:22:37.464026+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtel1 has been classified as Green List (High Evidence).",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:22:33.436731+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal recessive 5, 615190 (3) to Dyskeratosis congenita, autosomal recessive 5, MIM#615190",
"entity_name": "RTEL1",
"entity_type": "gene"
}
]
}