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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1444",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1442",
"results": [
{
"created": "2021-01-16T18:22:07.357981+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:21:54.906452+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196895; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:20:16.468801+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLMN as ready",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:20:16.458059+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glmn has been classified as Green List (High Evidence).",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:20:09.250394+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLMN were changed from Glomuvenous malformations to Glomuvenous malformations, MIM#\t138000",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:20:02.730634+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLMN were set to ",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:19:50.383922+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375657, 30460983, 24961656; Phenotypes: Glomuvenous malformations, MIM# 138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:17:07.496025+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:17:07.487649+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:16:57.012144+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENG were set to ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:16:44.995893+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:15:59.830855+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVRL1 were set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:15:49.529279+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:14:46.770400+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:14:46.759774+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:14:44.339663+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:13:30.457646+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:13:08.840897+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PIK3CA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:13:03.082358+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-01-16T15:30:00.428893+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T15:30:00.421013+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T15:29:55.725425+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5D as Green List (high evidence)",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T15:29:55.715165+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T15:29:15.608999+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2R5D was added\ngene: PPP2R5D was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2R5D were set to 33338668; 32743835\nPhenotypes for gene: PPP2R5D were set to Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM#\t616355\nReview for gene: PPP2R5D was set to GREEN\nAdded comment: 5 individuals reported with de novo missense variants in this gene, a neurodevelopmental disorder, and onset of parkinsonism between the ages of 20-40 years. Four had the same p.(Glu200Lys) variant, and the fifth had p.(Glu198Lys) \nSources: Literature",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:34:52.375113+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:34:52.363251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:34:47.552701+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:34:16.485935+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5D were set to ",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:33:44.350515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PPP2R5D was changed from to Other",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:33:14.543217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:32:41.781731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:31:40.059549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:31:40.048012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:31:22.331135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:31:03.510617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5D were set to ",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:28:59.267549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PPP2R5D was changed from to Other",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:28:31.378142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:27:35.469900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:27:35.459104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:27:25.791554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6B were changed from to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:27:05.847164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6B were set to ",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:26:30.206312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KAT6B was changed from to Other",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:26:07.228600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:25:01.652322+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DVL1 as ready",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:25:01.639266+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dvl1 has been classified as Green List (High Evidence).",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:24:54.520870+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DVL1 were changed from Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2\t616331 to Robinow syndrome, autosomal dominant 2, MIM# 616331",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:24:30.817679+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:23:15.706519+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:22:29.255700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DVL1 as ready",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:22:29.245126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dvl1 has been classified as Green List (High Evidence).",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:22:24.213511+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:22:10.770145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DVL1 were changed from to Robinow syndrome, autosomal dominant 2 (MIM#616331)",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:21:52.768126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DVL1 were set to ",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:21:33.589429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:20:57.593268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:19:53.397621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFP36L1 as ready",
"entity_name": "ZFP36L1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:19:53.389973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp36l1 has been classified as Red List (Low Evidence).",
"entity_name": "ZFP36L1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:19:45.218385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFP36L1 as Red List (low evidence)",
"entity_name": "ZFP36L1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:19:45.205699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp36l1 has been classified as Red List (Low Evidence).",
"entity_name": "ZFP36L1",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:18:56.709814+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCAMP5 was changed from None to Other",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:18:23.559379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:18:08.419383+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCAMP5 was changed from None to Other",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:17:38.241479+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:16:52.604229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCAMP5 were set to 31439720",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:16:29.831815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed publications: 31439720, 33390987",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:15:31.436468+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCAMP5 were changed from no OMIM number yet to Intellectual disability; seizures; autism",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:14:58.823105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCAMP5 were set to PMID: 31439720",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T12:14:21.067230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 33390987; Changed phenotypes: Intellectual disability, seizures, autism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:58:16.176085+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCAMP5 were set to 31439720",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:57:43.024106+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCAMP5: Added comment: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp.\r\n\r\nThe onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 31439720, 33390987",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:55:10.961048+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THSD4 as ready",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:55:10.949839+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd4 has been classified as Green List (High Evidence).",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:55:07.083029+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THSD4 as Green List (high evidence)",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:55:07.074942+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd4 has been classified as Green List (High Evidence).",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:53:09.717965+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THSD4 was added\ngene: THSD4 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THSD4 were set to 32855533\nPhenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)\nReview for gene: THSD4 was set to GREEN\nAdded comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix. \nSources: Literature",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:50:23.843047+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:THSD4-AS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T11:49:09.671686+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSPYL1 as Green List (high evidence)",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:49:09.660072+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspyl1 has been classified as Green List (High Evidence).",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:48:40.764623+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600, 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800), sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:46:18.699368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); sudden infant death-dysgenesis of the testes syndrome MONDO:0012124",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:46:00.246002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPYL1 were set to 15273283; 19463995; 22137496; 25449952; 16418600",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:45:36.788341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSPYL1 as Green List (high evidence)",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:45:36.779751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspyl1 has been classified as Green List (High Evidence).",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:43:23.464209+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF526 as ready",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:43:23.456109+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:43:19.455669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF526 as Green List (high evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:43:19.445803+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:42:47.610640+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF526 was added\ngene: ZNF526 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 21937992; 25558065; 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.\r\n\r\n- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:41:21.108652+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF526 as ready",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:41:21.098323+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:41:17.343353+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF526 as Green List (high evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:41:17.332916+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:41:04.772380+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF526 was added\ngene: ZNF526 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 21937992; 25558065; 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.\r\n\r\n- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:39:45.953650+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF526 as ready",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:39:45.939869+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:39:42.202242+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF526 as Green List (high evidence)",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:39:42.191996+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:39:12.312340+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF526 was added\ngene: ZNF526 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF526 were set to 21937992; 25558065; 33397746\nPhenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia\nReview for gene: ZNF526 was set to GREEN\nAdded comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.\r\n\r\n- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.\r\n\r\n- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum \nSources: Literature",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:37:37.969015+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF526 as ready",
"entity_name": "ZNF526",
"entity_type": "gene"
},
{
"created": "2021-01-16T11:37:37.957878+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf526 has been classified as Green List (High Evidence).",
"entity_name": "ZNF526",
"entity_type": "gene"
}
]
}