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{
"count": 220265,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1366",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1364",
"results": [
{
"created": "2021-04-01T17:20:40.118677+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Green List (High Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2021-04-01T17:20:37.882303+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM# 309500",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2021-04-01T17:20:09.319813+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2021-04-01T17:19:32.893469+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renpenning syndrome, MIM# 309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:40:13.251663+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, MIM# 613402 to Microcephaly, seizures, and developmental delay, MIM# 613402; MONDO:0013254",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:39:16.654745+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:39:16.641826+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:39:13.959569+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM# 613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:38:43.768690+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:38:11.118479+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T16:37:46.264196+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20118933, 23224214, 32980744, 31707899; Phenotypes: Microcephaly, seizures, and developmental delay, MIM# 613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:36:15.118464+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3579",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRD4 as Red List (low evidence)",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:36:15.109064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3579",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Red List (Low Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-04-01T15:35:09.780462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3578",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BRD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2021-04-01T13:03:56.114381+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF9 were set to ",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-04-01T13:03:19.823057+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF9 as Green List (high evidence)",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-04-01T13:03:19.814087+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf9 has been classified as Green List (High Evidence).",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-04-01T10:44:05.719697+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.15",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19589401, 28730625, 19219044; Phenotypes: Multiple synostoses syndrome 3 (612961); Mode of inheritance: None",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:05:22.145714+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:05:22.136428+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Red List (Low Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:05:18.918844+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:04:55.461929+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:04:34.074501+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCNT as Red List (low evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:04:34.064818+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Red List (Low Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T21:04:09.951886+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:58:33.276988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:58:33.267327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:58:26.280841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:58:07.371626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCNT were set to ",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:57:47.589445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:57:31.019328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:56:43.218999+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:56:43.209487+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:56:40.737020+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:56:18.319289+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCNT were set to ",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:55:49.328809+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:55:18.461706+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:37:25.914260+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC6 as ready",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:37:25.898917+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc6 has been classified as Green List (High Evidence).",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:37:23.190118+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3, MIM# 613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:36:59.292800+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-03-31T20:36:29.786210+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, MIM# 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-03-31T17:45:59.216234+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC4 as ready",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-03-31T17:45:59.206375+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc4 has been classified as Green List (High Evidence).",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-03-31T17:42:49.757904+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2, MIM# 613800; MONDO:0013428",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-03-31T17:41:23.715029+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-03-31T17:40:59.116131+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, MIM# 613800, MONDO:0013428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:56:25.001202+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:56:24.991062+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Green List (High Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:56:09.866866+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:55:31.280812+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:55:00.719007+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC1: Rating: GREEN; 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": "2021-03-31T16:53:37.278959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:53:37.268926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Green List (High Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:53:30.365841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:53:11.451161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:52:30.733734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:50:55.303671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:49:48.465333+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:48:56.684613+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NHEJ1: Changed phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:47:21.006009+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:47:20.995118+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Green List (High Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:47:15.233387+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:46:57.398665+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:45:49.597840+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:45:17.292813+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:37:56.412948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:37:56.402224+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nde1 has been classified as Green List (High Evidence).",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:37:52.018484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:37:19.599550+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDE1 were set to ",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:36:48.267402+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:36:15.723945+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21529752, 21529751, 30637988, 15473967; Phenotypes: Lissencephaly 4 (with microcephaly), MIM# 614019, MONDO:0013527, Microhydranencephaly, MIM# 605013, MONDO:0011504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:35:17.510817+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), MIM# 614019; Microhydranencephaly, MIM# 605013 to Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:05:39.313995+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:05:39.304509+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nde1 has been classified as Green List (High Evidence).",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:01:51.840827+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), MIM# 614019; Microhydranencephaly, MIM# 605013",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:01:29.696130+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDE1 were set to ",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:01:05.055405+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T16:00:40.772649+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21529752, 21529751, 30637988, 15473967; Phenotypes: Lissencephaly 4 (with microcephaly), MIM# 614019, Microhydranencephaly, MIM# 605013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:54:05.043146+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC37 as ready",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:54:05.026185+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Green List (High Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:53:42.019264+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1 to Trichohepatoenteric syndrome 1, MIM#222470",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:52:29.188337+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC37 as Green List (high evidence)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:52:29.178282+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Green List (High Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:47:13.203698+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKIV2L as ready",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:47:13.193891+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:47:10.493425+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 to Trichohepatoenteric syndrome 2, MIM#614602",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:46:49.046246+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SKIV2L as Green List (high evidence)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-03-31T15:46:49.037386+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:32:26.288699+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RET as ready",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:32:26.277444+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:32:22.066866+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RET as Green List (high evidence)",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:32:22.057213+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:31:58.040344+11:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Hypercalcaemia. Sources: Expert Review\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM#\t171400; Multiple endocrine neoplasia IIB, MIM#\t162300\nReview for gene: RET was set to GREEN\nAdded comment: Well established gene-disease association, hyperparathyroidism is a feature. \nSources: Expert Review",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:08:13.556460+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.39",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to Hair disorders. Sources: Expert Review\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC37 were set to 20176027; 17318842\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1\nPenetrance for gene: TTC37 were set to unknown\nReview for gene: TTC37 was set to GREEN\ngene: TTC37 was marked as current diagnostic\nAdded comment: Sources: Expert Review",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-03-31T14:02:55.656008+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.39",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: SKIV2L was added\ngene: SKIV2L was added to Hair disorders. Sources: Expert Review\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKIV2L were set to 18982349; 18982349; 22444670\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2\nPenetrance for gene: SKIV2L were set to unknown\nReview for gene: SKIV2L was set to GREEN\ngene: SKIV2L was marked as current diagnostic\nAdded comment: Sources: Expert Review",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:10:36.206258+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBN as ready",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:10:36.195337+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbn has been classified as Green List (High Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:10:33.868886+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-31T10:10:10.651106+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBN were set to ",
"entity_name": "NBN",
"entity_type": "gene"
}
]
}