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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1335",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1333",
"results": [
{
"created": "2021-04-29T09:37:51.233688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAL as ready",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:37:51.223368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnal has been classified as Green List (High Evidence).",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:37:34.290488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAL were changed from to Dystonia 25, MIM# 615073; MONDO:0014033",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:37:14.967564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAL were set to ",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:36:57.349910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:36:40.156464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222958, 33175450, 32180288; Phenotypes: Dystonia 25, MIM# 615073, MONDO:0014033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAL",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:31:26.627760+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to ",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:30:06.824445+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:29:39.032292+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.; to: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.\r\n\r\nNote one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:29:24.820828+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADCY5: Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:28:54.728624+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY5 as ready",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:28:54.719521+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy5 has been classified as Green List (High Evidence).",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:28:52.290345+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:28:17.758746+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to ",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:27:46.832595+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:27:20.529557+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22782511, 24700542, 33051786, 32647899, 33704598; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:26:38.705007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY5 as ready",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:26:38.691392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy5 has been classified as Green List (High Evidence).",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:26:31.463836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:12:22.854377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to ",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:12:02.594079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:11:45.349342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22782511, 24700542, 33051786, 32647899, 33704598; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:35:05.071602+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 1 family with 3 sibs with a renal disease reminiscent of nephronophthisis.; to: Three families reported but phenotype is predominantly a renal ciliopathy.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:34:14.105938+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 1 family with 3 sibs with a renal disease reminiscent of nephronophthisis.; to: 3 families reported but predominantly a renal ciliopathy phenotype.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:33:15.541228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Green List (high evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:33:15.523652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Green List (High Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:32:59.233177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: XPNPEP3: Added comment: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.\r\n\r\nPMID 32660933: Additional case reported.; Changed rating: GREEN; Changed publications: 20179356, 32660933",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:32:20.185907+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPNPEP3 were set to 20179356",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:31:48.349235+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Green List (high evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:31:48.338705+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Green List (High Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:31:24.600847+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: XPNPEP3: Added comment: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.\r\n\r\nPMID 32660933: Additional case reported.; Changed rating: GREEN; Changed publications: 32660933, 20179356",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:30:51.829169+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence.\r\n\r\nPMID 32660933: Additional case reported.; to: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.\r\n\r\nPMID 32660933: Additional case reported.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:30:31.770364+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Green List (high evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:30:31.760636+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Green List (High Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:29:51.550971+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Additional case reported.; to: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence.\r\n\r\nPMID 32660933: Additional case reported.",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:28:49.578914+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: XPNPEP3: Changed rating: GREEN",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:25:17.585174+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPNPEP3 were set to 20179356",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:24:49.302806+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Amber List (moderate evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:24:49.293566+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-29T07:24:16.205930+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32660933, 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:03:34.211678+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP1 as ready",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:03:34.200154+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap1 has been classified as Red List (Low Evidence).",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:03:31.361974+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion, 602629; MONDO:0011264",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:01:48.115688+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THAP1 were set to ",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:01:25.728929+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:00:57.978773+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THAP1 as Red List (low evidence)",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:00:57.969384+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap1 has been classified as Red List (Low Evidence).",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T18:00:29.157188+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, 602629, MONDO:0011264; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T17:57:11.024830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP1 as ready",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T17:57:11.012891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap1 has been classified as Green List (High Evidence).",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T17:57:01.999641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion, 602629; MONDO:0011264",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T17:56:33.421108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THAP1 were set to ",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T17:56:16.421414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T17:55:58.541685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, 602629, MONDO:0011264; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2021-04-28T16:44:31.723970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7396",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag for review was removed from gene: EIF4G1.",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-28T16:24:19.670166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7396",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF4G1 were set to 21907011; 23408866; 25368108",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-28T16:15:37.196933+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag for review tag was added to gene: UCHL1.",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:35:21.280555+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa-40, MIM #613801; Mode of inheritance: None",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:34:08.368248+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 56 MIM #613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:32:04.034528+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:24:29.999404+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brittle cornea syndrome 1, MIM #229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:24:02.581173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST11 as ready",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:24:02.570732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:23:47.415204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST11 as Amber List (moderate evidence)",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:23:47.405245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:23:29.790396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CHST11.",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:23:20.141982+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CHST11.",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:23:17.862510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST11 was added\ngene: CHST11 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST11 were set to 26436107; 29514872\nPhenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167\nReview for gene: CHST11 was set to AMBER\nAdded comment: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum.\r\n\r\nTwo unrelated families reported, note one had a homozygous deletion. One family had 10 affected individuals. \nSources: Expert Review",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:11:15.150488+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST11 as ready",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:11:15.135172+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:11:10.856891+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST11 as Amber List (moderate evidence)",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:11:10.847982+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T15:09:28.860652+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST11 was added\ngene: CHST11 was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST11 were set to 26436107; 29514872\nPhenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM#\t618167\nReview for gene: CHST11 was set to AMBER\nAdded comment: Two unrelated families reported, note one had a homozygous deletion. \nSources: Expert list",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2021-04-28T14:08:41.264037+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-28T09:31:51.133317+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-28T09:29:47.006356+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WRN as ready",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:29:46.994141+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrn has been classified as Green List (High Evidence).",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:29:44.288348+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:29:15.798257+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WRN were set to ",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:28:52.176650+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:28:27.279847+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Werner syndrome, MIM# 277700, MONDO:0010196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:26:26.971005+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRTN as ready",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:26:26.961099+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Green List (High Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:26:23.255858+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPRTN as Green List (high evidence)",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:26:23.245175+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Green List (High Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:25:56.006840+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRTN was added\ngene: SPRTN was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRTN were set to 25261934\nPhenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527\nReview for gene: SPRTN was set to GREEN\nAdded comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features. \nSources: Expert Review",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:24:00.715238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRTN were changed from Ruijs-Aalfs syndrome, MIM# 616200 to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:23:43.390728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPRTN: Changed phenotypes: Ruijs-Aalfs syndrome, MIM# 616200, MONDO:0014527",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:23:09.492107+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRTN as ready",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:23:09.483276+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:23:05.760995+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRTN were set to ",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:22:33.869126+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:22:08.391838+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:21:30.219111+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPRTN as Amber List (moderate evidence)",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:21:30.205452+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:21:00.239461+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:16:34.685488+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.\r\n\r\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).\r\n\r\nMore than 10 molecularly confirmed cases reported.\r\n\r\nDigenic inheritance has been proposed in some individuals with variants in other PSMB genes.; to: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.\r\n\r\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anaemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).\r\n\r\nMore than 10 molecularly confirmed cases reported.\r\n\r\nDigenic inheritance has been proposed in some individuals with variants in other PSMB genes.",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:16:03.574598+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMB8 as ready",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:16:03.561954+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb8 has been classified as Green List (High Evidence).",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2021-04-28T09:16:01.203104+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698",
"entity_name": "PSMB8",
"entity_type": "gene"
}
]
}