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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1344",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1342",
"results": [
{
"created": "2021-04-23T18:30:49.085471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:30:26.039950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:29:08.891902+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLH as ready",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:29:08.878310+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polh has been classified as Green List (High Evidence).",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:29:05.966785+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:28:41.330867+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLH were set to ",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:28:11.354862+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T18:27:41.520157+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2021-04-23T17:08:04.425431+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PALB2 as ready",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-04-23T17:08:04.389310+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: palb2 has been classified as Green List (High Evidence).",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-04-23T17:07:59.841681+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-04-23T17:07:30.487053+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-04-23T16:54:12.699656+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:45:46.611659+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:45:46.601209+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Red List (Low Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:45:42.557998+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.282",
"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; MONDO:0012650",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:45:12.955674+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:44:40.708659+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.280",
"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": "2021-04-23T14:44:18.620908+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHEJ1 as Red List (low evidence)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:44:18.609699+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Red List (Low Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:43:52.980628+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:36:32.048080+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:36:32.037755+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.136",
"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": "2021-04-23T14:35:49.264161+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.136",
"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; MONDO:0012650",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:35:16.789838+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T14:34:29.595044+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.134",
"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": "2021-04-23T14:33:27.053678+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:24:12.427722+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACBD5 were set to 23105016; 27799409",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:23:58.797920+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACBD5: Added comment: PMID 33427402: additional report of 36 year old female with retinal dystrophy, leukodystrophy, and psychomotor regression that started at 3 years old and a novel homozygous variant in ACBD5 (c.1467G>A, p.Trp489*).; Changed publications: 27799409, 23105016, 33427402",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:19:19.630098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM#\t618374 to Epileptic encephalopathy, early infantile, 72, MIM#\t618374; Intellectual disability",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:18:54.262268+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROD2 as ready",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:18:54.250806+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurod2 has been classified as Green List (High Evidence).",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:18:49.153593+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM# 618374 to Epileptic encephalopathy, early infantile, 72, MIM# 618374; Intellectual disability",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:18:18.953946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEUROD2 were set to 30323019",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:17:59.772614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEUROD2: Added comment: Additional two individuals reported with de novo variants and predominantly ID phenotype.; Changed publications: 33438828, 30323019; Changed phenotypes: Epileptic encephalopathy, early infantile, 72, MIM# 618374",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:17:40.378045+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEUROD2 as Green List (high evidence)",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:17:40.369281+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurod2 has been classified as Green List (High Evidence).",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:17:07.023353+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEUROD2 was added\ngene: NEUROD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEUROD2 were set to 33438828; 30323019\nPhenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374\nReview for gene: NEUROD2 was set to GREEN\nAdded comment: Four unrelated individuals altogether with de novo variants in this gene, two presenting predominantly with seizures, and two with ID. \nSources: Literature",
"entity_name": "NEUROD2",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:14:18.192163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRE11 as ready",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T10:14:18.182379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mre11 has been classified as Green List (High Evidence).",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:31:19.656111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:31:02.148397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRE11 were set to ",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:28:04.931434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:27:39.745893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:26:44.648144+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRE11 as ready",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:26:44.636306+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mre11 has been classified as Green List (High Evidence).",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:26:41.784916+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:26:13.433251+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRE11 were set to ",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:25:45.954736+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:25:14.271009+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:17:52.224175+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPLKIP as ready",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:17:52.214292+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mplkip has been classified as Green List (High Evidence).",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:17:48.471299+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:17:16.248205+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPLKIP were set to ",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:16:44.440221+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:16:03.515680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:15:15.690582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPLKIP as ready",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:15:15.680719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mplkip has been classified as Green List (High Evidence).",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:15:07.668383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:14:47.794603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPLKIP were set to ",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:14:27.148565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:14:07.762316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:13:09.817104+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPLKIP as ready",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:13:09.807547+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mplkip has been classified as Green List (High Evidence).",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:13:06.544928+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:12:43.761038+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPLKIP were set to ",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:12:17.056611+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T09:11:43.979331+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-04-23T07:42:51.846393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CD as ready",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2021-04-23T07:42:51.833422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2021-04-23T07:42:43.043036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2021-04-23T07:42:20.836149+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CD were set to ",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2021-04-23T07:41:52.708413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2021-04-23T07:41:35.158168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295; Phenotypes: Immunodeficiency 14B, autosomal recessive, MIM# 619281, Immunodeficiency 14A, autosomal dominant, MIM# 615513; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:34:28.417389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:34:28.407026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:34:19.920456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:34:02.009070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2H5 were set to ",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:33:28.566842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:33:09.257512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:32:10.840123+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:32:10.827849+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:31:55.175366+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:31:31.859375+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2H5 were set to ",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:31:03.806019+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:30:38.730256+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:26:21.209656+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2E2 as ready",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:26:21.194559+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:26:16.002613+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:25:59.132847+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2E2 as Amber List (moderate evidence)",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:25:59.109652+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:25:48.763326+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973399; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943, MONDO:0014841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:25:09.761837+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; OMIM #616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:24:37.170981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2E2 as Amber List (moderate evidence)",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:24:37.162107+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:24:01.794992+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:23:46.685931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2E2 as ready",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:23:46.676087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:23:34.302621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2E2 were changed from to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2021-04-22T21:23:15.746505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2E2 were set to ",
"entity_name": "GTF2E2",
"entity_type": "gene"
}
]
}