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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=273",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=271",
"results": [
{
"created": "2025-04-04T18:52:58.589097+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:52:51.934531+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive to Galloway-Mowat syndrome 3, MIM# 617729",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:52:42.174893+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSGEP were set to ",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:51:58.909705+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSTM1 as ready",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:51:58.901000+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostm1 has been classified as Green List (High Evidence).",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:51:55.243739+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5, 259720 (3) to Osteopetrosis, autosomal recessive 5, MIM#259720",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:51:45.333665+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSTM1 were set to ",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:51:32.983881+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:50:44.538173+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH15 as ready",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:50:44.531747+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh15 has been classified as Green List (High Evidence).",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:50:41.100471+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH15 were changed from Usher syndrome, type 1F, 602083 (3) to Usher syndrome, type 1F, MIM# 602083",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:50:32.121759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH15 were set to ",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:50:01.000707+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A8 as ready",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:50:00.994321+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:49:58.041563+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIn MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:49:46.950225+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A8 were set to ",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:49:24.758645+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:49:24.746971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:49:21.569395+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from Congenital disorder of glycosylation, type Iq, 612379 (3) to Congenital disorder of glycosylation, type Iq MIM#612379; Kahrizi syndrome#612713; SRD5A3-congenital disorder of glycosylation (MONDO:0012885)",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:49:11.745078+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:48:48.172339+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D23 as ready",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:48:48.163708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d23 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:48:44.539277+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 11, MIM#617695",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:48:25.753138+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D23 were set to ",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:47:59.315909+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: LRSAM1.",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:47:09.931151+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCIRG1 as ready",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:47:09.924651+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:47:00.773988+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, 259700 (3) to Osteopetrosis, autosomal recessive 1 MIM#259700",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:46:49.252715+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCIRG1 were set to ",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:46:03.351018+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:46:03.343964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:46:00.149407+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:45:50.317825+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:45:24.444347+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGAP1 as ready",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:45:24.438110+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgap1 has been classified as Green List (High Evidence).",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:45:21.251759+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGAP1 were changed from Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:45:11.782677+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGAP1 were set to ",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:44:46.731585+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1A as ready",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:44:46.725225+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Green List (High Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:44:44.108533+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:44:34.154116+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POC1A were set to ",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:44:17.270143+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: FSHB: Changed rating: GREEN",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:44:12.414255+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FSHB was added\ngene: FSHB was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FSHB were set to 8220432; 8220432; 9624193; 9806482; 12161499\nPhenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia, MIM# 229070\nAdded comment: Literature in OMIM (PMID:8220432;8220432;9624193;9806482;12161499)- multiple unrelated infertile women and males with isolated FSH deficiency carrying biallelic LOF variants \nSources: Literature",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:59.362486+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPA2 as ready",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:59.355696+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppa2 has been classified as Green List (High Evidence).",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:56.282076+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive to Sudden cardiac failure, infantile, MIM#617222; Sudden cardiac failure, alcohol-induced, MIM#617223",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:43.341288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPA2 were set to ",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:16.709762+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:16.703351+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:12.920339+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) to Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085; Cholestasis, progressive familial intrahepatic, 12 MIM#620010; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:42:02.365521+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS33B were set to ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:41:33.200853+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM12 as ready",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:41:33.194970+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm12 has been classified as Green List (High Evidence).",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:41:29.986231+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM12 were changed from Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:41:17.866550+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM12 were set to ",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:40:48.456534+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRX as ready",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:40:48.447741+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prx has been classified as Green List (High Evidence).",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:39:06.605006+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, 145900 (3) to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:56.762846+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRX were set to ",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:35.287594+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:35.278296+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:32.503587+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:22.044617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:00.516359+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QDPR as ready",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:38:00.510341+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qdpr has been classified as Green List (High Evidence).",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:37:57.296928+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:37:47.364213+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QDPR were set to ",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:37:24.276733+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB27A as ready",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:37:24.266476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab27a has been classified as Green List (High Evidence).",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:36:14.970995+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB27A were changed from Griscelli syndrome, type 2, 607624 (3) to Griscelli syndrome, type 2, MIM# 607624",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:36:05.836530+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB27A were set to ",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:35:28.312489+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD50 as ready",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:35:28.302932+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:35:25.086055+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, 613078 (3) to Nijmegen breakage syndrome-like disorder, MIM# 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:35:13.543861+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to ",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:34:49.804264+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1L as ready",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:34:49.797783+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1l has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:34:46.969567+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1L were changed from Meckel syndrome 5, 611561 (3) to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Ciliopathy, RPGRIP1L-related, MONDO:0005308",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:34:37.504135+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1L were set to ",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:32:39.416968+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FSHR was added\ngene: FSHR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FSHR were set to 7553856; 9769327; 11889179; 20087398; 12930927; 12930928; 17721928; 36704038\nPhenotypes for gene: FSHR were set to Ovarian dysgenesis 1, MIM# 233300; Ovarian hyperstimulation syndrome, MIM# 608115\nAdded comment: Literature in OMIM- \r\ni) biallelic variants for ovarian dysgenesis, supported by functional evidence- PMID:7553856; 9769327;11889179;20087398\r\nii) monoallelic variants for ovarian hyperstimulation syndrome- PMID:12930927;12930928;17721928 \r\n\r\nNew paper:\r\ni) PMID: 36704038- Novel compound heterozygous variants (Ala462Pro and p.Ala621Val) in a woman with primary ovarian insufficiency with resistant ovary syndrome. In vitro experiments revealed that the p.Ala462Pro variant resulted in barely detectable levels of intracellular signaling both in cAMP-dependent CRE-reporter activity and ERK activation and displayed a severely reduced plasma membrane receptor expression. In contrast, the p.Ala621Val variant resulted in partial loss of receptor activation without disruption of cell surface expression. \nSources: Literature",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:28:07.462760+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A4 as ready",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:28:07.455956+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:27:58.023463+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A4 were set to ",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:27:32.692023+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:27:32.685605+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:27:29.783554+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2, 601847 (3) to Cholestasis, progressive familial intrahepatic 2, MIM# 601847",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:27:18.417016+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB11 were set to ",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:26:54.996227+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: FITM2.",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:40.643050+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP5 as ready",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:40.636311+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp5 has been classified as Green List (High Evidence).",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:36.729853+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP5 as Green List (high evidence)",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:36.723680+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp5 has been classified as Green List (High Evidence).",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:18.832816+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFM1 as ready",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:18.826730+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfm1 has been classified as Green List (High Evidence).",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:06.317826+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HFM1 as Green List (high evidence)",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:25:06.309047+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfm1 has been classified as Green List (High Evidence).",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:24:40.604129+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF9 as ready",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:24:40.597998+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf9 has been classified as Green List (High Evidence).",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:24:37.015665+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF9 as Green List (high evidence)",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2025-04-04T18:24:37.009852+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf9 has been classified as Green List (High Evidence).",
"entity_name": "GDF9",
"entity_type": "gene"
}
]
}