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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=64",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=62",
"results": [
{
"created": "2026-01-08T17:57:04.234759+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:56:45.110943+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CFAP43 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T17:56:45.016079+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP43 was added\ngene: CFAP43 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CFAP43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP43 were set to 31884020; 31004071; 29449551; 28552195; 29277146; 29449551; 34089056; 34100391; 34529793; 36960497; 38745955; 40376536; 41341611\nPhenotypes for gene: CFAP43 were set to Spermatogenic failure 19 MONDO:0054723",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:56:15.778448+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:56:11.758121+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DISPUTED by ClinGen for biallelic PCD.\r\n\r\nLIMITED for association with hydrocephalus.; to: DISPUTED by ClinGen for biallelic PCD.\r\n\r\nLIMITED for association with hydrocephalus.\r\n\r\nDEFINITIVE for association with infertility only, hence Green on the relevant panel.",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:55:39.856608+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP43 as Red List (low evidence)",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:55:39.849551+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:55:13.215478+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DISPUTED by ClinGen for biallelic disease.; to: DISPUTED by ClinGen for biallelic PCD.\r\n\r\nLIMITED for association with hydrocephalus.",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:54:48.507560+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP43: Changed rating: RED",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:54:07.658800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP43 were changed from Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19\t617592 to Spermatogenic failure 19 MONDO:0054723",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:53:43.497332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:53:00.275921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP43 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:52:45.227202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP43 as Green List (high evidence)",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:52:45.214899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Green List (High Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:52:28.890077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.\r\n\r\nDEFINITIVE by ClinGen for this association.\r\n\r\nNote association with PCD is DISPUTED.\r\n\r\nWeak evidence for association with hydrocephalus.; to: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.\r\n\r\nDEFINITIVE by ClinGen for this association.\r\n\r\nNote association with PCD is DISPUTED.\r\n\r\nLIMITED for association with hydrocephalus.",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:52:02.126910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP43: Added comment: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.\r\n\r\nDEFINITIVE by ClinGen for this association.\r\n\r\nNote association with PCD is DISPUTED.\r\n\r\nWeak evidence for association with hydrocephalus.; Changed rating: GREEN; Changed publications: 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611; Changed phenotypes: Spermatogenic failure 19 MONDO:0054723",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:48:33.966625+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to}\t618549 to {Hepatitis, fulminant viral, susceptibility to}\t618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:48:27.957921+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL18BP were set to 31213488",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:48:17.428987+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL18BP as Amber List (moderate evidence)",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:48:17.421352+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il18bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:48:08.413129+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:47:40.373432+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to}\t618549 to {Hepatitis, fulminant viral, susceptibility to}\t618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:47:21.558719+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL18BP were set to 31213488",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:46:57.746130+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL18BP as Amber List (moderate evidence)",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:46:57.736160+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il18bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:46:35.508382+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:46:27.721850+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL18BP as ready",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:46:27.713570+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il18bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:46:16.149014+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:45:53.254054+11:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: GCM2 were changed from Familial isolated hyperparathyroidism MONDO:0015027 to Hypoparathyroidism, familial isolated 2, OMIM #618883",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:45:50.342903+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL18BP were set to 31213488",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:45:16.581684+11:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: GCM2 were set to 27745835",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:45:09.344126+11:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:44:57.249206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3998",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745835, 35038313, 20190276; Phenotypes: Hyperparathyroidism 4, OMIM #617343, Hypoparathyroidism, familial isolated 2, OMIM #618883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:43:45.887879+11:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35038313, 20190276; Phenotypes: Hypoparathyroidism, familial isolated 2, OMIM #618883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:43:29.997662+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL18BP as Amber List (moderate evidence)",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:43:29.987702+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il18bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:43:06.723408+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 41334112, 31213488; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:42:55.967359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; to: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. ",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:42:09.150092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL18BP as Amber List (moderate evidence)",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:42:09.143302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il18bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:41:54.941401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; Changed rating: AMBER; Changed publications: 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:38:55.469041+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOP58 as ready",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:38:55.461616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nop58 has been classified as Red List (Low Evidence).",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:38:45.594607+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOP58 as ready",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:38:45.587069+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nop58 has been classified as Red List (Low Evidence).",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:38:27.011294+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.390",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NOP58 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T17:38:26.838669+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOP58 was added\ngene: NOP58 was added to Microcephaly. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOP58 were set to 41383020\nPhenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:37:47.894651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.557",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NOP58 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T17:37:47.512969+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOP58 was added\ngene: NOP58 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOP58 were set to 41383020\nPhenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:36:50.185435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOP58 as ready",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:36:50.178600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nop58 has been classified as Red List (Low Evidence).",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:36:41.067977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOP58 was added\ngene: NOP58 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOP58 were set to 41383020\nPhenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related\nReview for gene: NOP58 was set to RED\nAdded comment: PMID 41383020 reports a single individual with homozygous hypomorphic loss‑of‑function synonymous variant c.516G>A in NOP58 presenting with severe neurodevelopmental disorder characterized by global developmental delay, microcephaly, early‑onset seizures, facial dysmorphism, and brain structural anomalies. Functional studies in patient fibroblasts demonstrated exon 7 skipping, ~12 % residual NOP58 protein, reduced fibrillarin, altered nucleolar morphology, decreased box C/D snoRNAs, and impaired pre‑rRNA maturation. \nSources: Literature",
"entity_name": "NOP58",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:22:10.543133+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDX3 as ready",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:22:10.536024+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx3 has been classified as Green List (High Evidence).",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:22:02.191102+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia MONDO:0000437, PRDX3-related to Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:21:32.042617+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDX3 were set to PMID: 33889951",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:21:07.994458+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDX3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:20:11.422338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia MONDO:0000437, PRDX3-related to Cerebellar ataxia MONDO:0000437, PRDX3-related; Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:19:48.482201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDX3 were set to PMID: 33889951",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:19:45.983588+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PRDX3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T17:19:45.586664+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDX3 was added\ngene: PRDX3 was added to Corneal Dystrophy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDX3 were set to PMID: 33889951\nPhenotypes for gene: PRDX3 were set to Cerebellar ataxia MONDO:0000437, PRDX3-related\nPenetrance for gene: PRDX3 were set to unknown",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:19:24.740569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDX3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:18:45.927803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31782998, 34369396; Phenotypes: Corneal dystrophy, punctiform and polychromatic pre-Descemet 619871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDX3",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:55:15.228698+11:00",
"panel_name": "Hypophosphataemia or rickets",
"panel_id": 122,
"panel_version": "0.52",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from retired to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T16:52:43.651613+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.392",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T16:44:52.490120+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.391",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:42:30.087307+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.391",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FAM20B as Green List (high evidence)",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:42:30.076335+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.391",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fam20b has been classified as Green List (High Evidence).",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:37:17.435256+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SRP54 as Red List (low evidence)",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:37:17.427331+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Red List (Low Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:36:54.462329+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.389",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SRP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:34:42.488542+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.389",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SEMA3A as Red List (low evidence)",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:34:42.481023+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.389",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Red List (Low Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2026-01-08T16:34:23.305730+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:58:23.222745+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DSPP as Red List (low evidence)",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:58:23.211278+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dspp has been classified as Red List (Low Evidence).",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:57:57.716795+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:51:10.534546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3993",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Added comment: Comment on publications: Addition of AD publications",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:51:10.516593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3993",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:33.986717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3992",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21519523, 27693233; Phenotypes: Leigh syndrome MONDO:0009723, autosomal dominant progressive external ophthalmoplegia MONDO:0008003; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:28.925732+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: VPS33A as ready",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:28.918012+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vps33a has been classified as Green List (High Evidence).",
"entity_name": "VPS33A",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:15.883266+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: SLC35B2 as ready",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:15.871876+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc35b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:00.570941+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PDIA6 as ready",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:50:00.555792+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Green List (High Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:49.443595+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FGF4 as ready",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:49.435878+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:43.731606+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: LRRC8C as ready",
"entity_name": "LRRC8C",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:43.724147+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrrc8c has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC8C",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:34.029440+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: C16orf62 as ready",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:34.022012+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:26.309677+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: WBP11 as ready",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:49:26.301573+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:48:34.821796+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NMNAT1 as ready",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:48:34.813678+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:48:08.361860+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NMNAT1 as Amber List (moderate evidence)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:48:08.333861+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2026-01-08T15:47:50.813048+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NMNAT1 as Amber List (moderate evidence)",
"entity_name": "NMNAT1",
"entity_type": "gene"
}
]
}