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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=722",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=720",
"results": [
{
"created": "2022-10-06T17:28:12.607776+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNM1 as ready",
"entity_name": "SCNM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:28:12.600181+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnm1 has been classified as Green List (High Evidence).",
"entity_name": "SCNM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:26:11.256155+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRG1 were changed from to Developmental and epileptic encephalopathy MONDO:0100062",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:25:35.908617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRG1 were set to ",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:25:08.745729+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:23:59.596287+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSMR as ready",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:23:59.587554+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osmr has been classified as Red List (Low Evidence).",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:23:55.923751+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSMR were changed from Amyloidosis, primary cutaneous to Amyloidosis, primary localized cutaneous, 1 - MIM#105250",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:23:42.733245+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSMR as Red List (low evidence)",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:23:42.726491+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osmr has been classified as Red List (Low Evidence).",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:23:30.369683+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:22:18.067861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus to Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:22:02.519161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC32A1 were set to 34038384",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:21:31.123463+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC32A1 were set to 34038384; 36073542",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:20:57.091184+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus to Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:20:31.659683+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC32A1 were set to 34038384",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:16:12.804907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:16:12.790591+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Red List (Low Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:16:09.600864+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 1, MIM# 224690",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:15:56.386234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORC1 as Red List (low evidence)",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:15:56.378872+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Red List (Low Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:15:44.044381+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:15:08.757189+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA1 as ready",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:15:08.738962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Red List (Low Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:15:03.027144+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Optic atrophy 1 to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:14:51.273252+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:14:42.327082+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPA1 as Red List (low evidence)",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:14:42.319978+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Red List (Low Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:14:31.049265+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896, Behr syndrome MIM#210000, AR, Optic atrophy 1, MIM#165500, Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:05:36.309296+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:05:36.300522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Red List (Low Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:05:27.137088+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from Oral-facial-digital syndrome to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:05:12.723164+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Red List (low evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:05:12.716319+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Red List (Low Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:05:01.867069+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:04:07.556151+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCRL as ready",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:04:07.549175+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Red List (Low Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:04:03.507598+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCRL were changed from Lowe oculocerebrorenal syndrome to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:03:50.461154+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OCRL as Red List (low evidence)",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:03:50.453994+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Red List (Low Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:03:38.289010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:50.538849+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCA2 as ready",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:50.531430+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oca2 has been classified as Red List (Low Evidence).",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:47.531798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:35.923533+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:25.620797+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OCA2 as Red List (low evidence)",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:25.613349+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oca2 has been classified as Red List (Low Evidence).",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:02:13.256609+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:01:24.599312+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OBSL1 as ready",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:01:24.591713+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obsl1 has been classified as Red List (Low Evidence).",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:01:20.301680+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OBSL1 were changed from 3-M syndrome to 3-M syndrome 2, MIM #612921",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:01:08.191921+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OBSL1 as Red List (low evidence)",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:01:08.179300+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obsl1 has been classified as Red List (Low Evidence).",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-10-06T17:00:55.644143+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:56:41.871699+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTRK1 as ready",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:56:41.864736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk1 has been classified as Red List (Low Evidence).",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:56:33.491619+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTRK1 as Red List (low evidence)",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:56:33.475408+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk1 has been classified as Red List (Low Evidence).",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:56:21.513056+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:55:20.382676+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSD1 as ready",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:55:20.374429+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Red List (Low Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:55:16.767286+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from Sotos syndrome to Sotos syndrome 1, MIM# 117550",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:55:04.564691+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSD1 as Red List (low evidence)",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:55:04.555699+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Red List (Low Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:54:52.967752+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:54:10.013313+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR5A1 as ready",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:54:10.005555+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr5a1 has been classified as Green List (High Evidence).",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:54:06.489188+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR5A1 were changed from 46, XX sex reversal 4, MIM#\t617480; 46XY sex reversal 3, MIM#\t612965 to Adrenocortical insufficiency, (MIM#612964)",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:53:51.476444+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: NR5A1.",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:53:40.443456+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency, (MIM#612964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:52:43.096114+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR3C2 as ready",
"entity_name": "NR3C2",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:52:43.087319+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr3c2 has been classified as Green List (High Evidence).",
"entity_name": "NR3C2",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:52:33.733982+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR3C2",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:51:41.807293+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR0B1 as ready",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:51:41.793146+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr0b1 has been classified as Green List (High Evidence).",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:51:38.348867+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR0B1 were changed from Congenital adrenal hypoplasia to Adrenal hypoplasia, congenital (MIM# 300200)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:51:24.574680+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: NR0B1.",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:51:14.273179+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:49:08.452552+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHS1 as ready",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:49:08.444036+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphs1 has been classified as Red List (Low Evidence).",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:49:04.644030+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHS1 were changed from Congenital nephrotic syndrome, Finnish type to Nephrotic syndrome, type 1, MIM# 256300",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:48:49.428454+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPHS1 as Red List (low evidence)",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:48:49.419754+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphs1 has been classified as Red List (Low Evidence).",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:48:31.469522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:47:48.187749+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP4 as ready",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:47:48.179682+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:47:44.231571+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:47:27.968710+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPHP4 as Red List (low evidence)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:47:27.958123+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:47:17.310562+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:46:38.700939+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP3 as ready",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:46:38.690865+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp3 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:46:34.923234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP3 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:45:38.792855+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:45:23.614949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPHP3 as Red List (low evidence)",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:45:23.605335+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp3 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:28:42.413872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.376",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SCNM1 as ready",
"entity_name": "SCNM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:28:42.405966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.376",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: scnm1 has been classified as Green List (High Evidence).",
"entity_name": "SCNM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:28:40.295028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.376",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SCNM1 as Green List (high evidence)",
"entity_name": "SCNM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T16:28:40.287206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.376",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: scnm1 has been classified as Green List (High Evidence).",
"entity_name": "SCNM1",
"entity_type": "gene"
}
]
}