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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1591",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1589",
"results": [
{
"created": "2020-09-14T20:17:54.849871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS17 were set to ",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:17:34.951078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:17:21.498727+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:17:17.369459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:16:08.795267+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS17 as ready",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:16:08.784594+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps17 has been classified as Green List (High Evidence).",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:16:02.426174+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:15:42.501702+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS17 were set to ",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:15:18.766974+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:14:51.015024+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:14:36.318986+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS17 as ready",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:14:36.306541+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps17 has been classified as Green List (High Evidence).",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:14:23.205989+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS17 as Green List (high evidence)",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:14:23.191417+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps17 has been classified as Green List (High Evidence).",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T20:13:54.935001+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS17 were set to 17647292; 19061985; 23812780; 23718193\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, MIM#\t612527\nReview for gene: RPS17 was set to GREEN\nAdded comment: Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anaemia, reticulocytopaenia, and nearly absent erythroid progenitors in the bone marrow. Individuals show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of haemoglobin F. However, some do not exhibit these findings, and even in the same family, symptoms can vary between affected family members. At least 5 families reported with variants in this gene. \nSources: Expert list",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:42:11.745809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL9 as ready",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:42:11.732938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Red List (Low Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:42:03.269398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL9 was added\ngene: RPL9 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL9 were set to 29114930; 20116044\nPhenotypes for gene: RPL9 were set to Diamond Blackfan anaemia\nReview for gene: RPL9 was set to RED\nAdded comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. \nSources: Expert list",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:40:51.260819+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL9 as ready",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:40:51.237861+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Red List (Low Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:40:44.771751+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL9 was added\ngene: RPL9 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL9 were set to 29114930; 20116044\nPhenotypes for gene: RPL9 were set to Diamond Blackfan anaemia\nReview for gene: RPL9 was set to RED\nAdded comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. \nSources: Expert list",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:39:29.715170+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL9 as ready",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:39:29.705342+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Red List (Low Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:39:23.437177+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL9 was added\ngene: RPL9 was added to Diamond Blackfan anaemia. Sources: Expert list\nMode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL9 were set to 29114930; 20116044\nPhenotypes for gene: RPL9 were set to Diamond Blackfan anaemia\nReview for gene: RPL9 was set to RED\nAdded comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. \nSources: Expert list",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:12:17.965901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL31 as ready",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:12:17.954321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:12:05.853520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:11:47.109605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL31 were set to ",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:11:12.987469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:10:55.223832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL31 as Amber List (moderate evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:10:55.213482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:10:37.740861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:10:01.660630+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL31 as ready",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:10:01.646933+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:09:59.073984+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:09:37.666566+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL31 were set to ",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:09:11.484590+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:08:46.874035+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL31 as Amber List (moderate evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:08:46.863891+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:08:20.830585+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:07:47.779250+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL31 as ready",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:07:47.769168+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:07:31.904497+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL31 as Amber List (moderate evidence)",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:07:31.893601+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl31 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T18:07:09.062192+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL31 was added\ngene: RPL31 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL31 were set to 25042156; 25424902\nPhenotypes for gene: RPL31 were set to Diamond Blackfan anaemia\nReview for gene: RPL31 was set to AMBER\nAdded comment: Three individuals reported with DBA phenotype and variants in this gene: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS. \nSources: Expert list",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:52:38.114315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:52:38.103512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:52:31.475180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:52:14.935894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:51:58.705915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:51:40.782508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:50:33.525425+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:50:33.515373+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:50:31.010456+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:50:04.710765+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:49:37.974261+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:49:13.897378+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:45:54.180360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXSR1 as ready",
"entity_name": "OXSR1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:45:54.170198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxsr1 has been classified as Red List (Low Evidence).",
"entity_name": "OXSR1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:45:47.403343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXSR1 as Red List (low evidence)",
"entity_name": "OXSR1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:45:47.395368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxsr1 has been classified as Red List (Low Evidence).",
"entity_name": "OXSR1",
"entity_type": "gene"
},
{
"created": "2020-09-14T17:45:31.916249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OXSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OXSR1",
"entity_type": "gene"
},
{
"created": "2020-09-14T14:06:30.350391+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSTPIP1 as ready",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2020-09-14T14:06:30.341588+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pstpip1 has been classified as Green List (High Evidence).",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2020-09-14T14:06:28.160265+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2020-09-14T14:06:07.441879+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2020-09-14T14:05:45.201597+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2020-09-14T14:00:40.282501+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPM1",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:55:25.783262+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHP2 as ready",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:55:25.772634+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Green List (High Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:55:23.679842+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:54:56.995005+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:54:17.318168+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:53:53.250081+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:52:49.050482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHP2 as ready",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:52:49.038932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Green List (High Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:52:42.826293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:52:26.826273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:52:08.977177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T13:51:49.642408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T11:24:37.277088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4409",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GGT1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29483667, 23615310; Phenotypes: ?Glutathioninuria 231950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGT1",
"entity_type": "gene"
},
{
"created": "2020-09-14T11:11:14.995168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4409",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: JPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "JPT1",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:57:06.695497+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHP2 as ready",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:57:06.687094+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Green List (High Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:57:03.827828+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:56:29.481010+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:55:51.833688+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:55:19.653859+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NHP2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:55:10.488996+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: ; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: None",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:49:15.047610+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH9 as ready",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:49:15.035027+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh9 has been classified as Green List (High Evidence).",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:49:12.744097+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:48:50.037704+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH9 were set to ",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:47:56.607874+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:47:29.267963+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973259, 10973260; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:41:34.036806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:41:34.026394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:41:26.764117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:41:04.109457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:40:47.084906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
}
]
}