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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1393",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1391",
"results": [
{
"created": "2021-03-06T17:42:20.414472+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:41:18.873477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC1 as ready",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:41:18.865745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc1 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:41:11.755732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:40:54.200960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to ",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:40:36.959174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:40:18.766259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:40:12.250215+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene is involved in regulating glycogen synthesis. Abnormal intracellular glycogen accumulation is part of the pathogenesis of this disorder.\r\n\r\nWell established gene-disease association, multiple families reported.; to: Gene is involved in regulating glycogen synthesis. Abnormal intracellular glycogen accumulation is part of the pathogenesis of this disorder.\r\n\r\nWell established gene-disease association, multiple families reported.\r\n\r\nThe Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans.",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:38:10.848169+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC1 as ready",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:38:10.840614+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc1 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:38:08.524866+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:37:38.495184+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to ",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:37:09.511191+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:36:34.805557+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:32:21.413972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: LDHA.",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:32:09.674313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDHA as ready",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:32:09.647924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldha has been classified as Green List (High Evidence).",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:31:56.685131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, MIM# 612933",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:31:37.603880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDHA were set to ",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:31:14.433434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:30:54.597963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2334430, 1959923, 8327147; Phenotypes: Glycogen storage disease XI, MIM# 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:30:00.486095+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDHA as ready",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:30:00.477186+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldha has been classified as Green List (High Evidence).",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:29:57.505797+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, MIM# 612933",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:29:21.685748+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDHA were set to ",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:28:51.863811+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:28:23.111545+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: LDHA.",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:28:14.655859+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2334430, 1959923, 8327147; Phenotypes: Glycogen storage disease XI, MIM# 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:06:57.634612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIAH1 as ready",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:06:57.623521+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: siah1 has been classified as Green List (High Evidence).",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:06:52.119856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIAH1 as Green List (high evidence)",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:06:52.112052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: siah1 has been classified as Green List (High Evidence).",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:06:20.946691+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIAH1 was added\ngene: SIAH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIAH1 were set to 32430360\nPhenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia\nReview for gene: SIAH1 was set to GREEN\nAdded comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity. \nSources: Literature",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:04:00.460441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIAH1 as ready",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:04:00.450206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: siah1 has been classified as Green List (High Evidence).",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:03:46.485146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIAH1 as Green List (high evidence)",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:03:46.475154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: siah1 has been classified as Green List (High Evidence).",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:02:17.325837+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-06T14:01:27.766544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL18 as ready",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:01:27.755494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:01:19.152799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL18 as Amber List (moderate evidence)",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:01:19.143067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T14:01:01.470426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL18 was added\ngene: RPL18 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL18 were set to 28280134; 32075953\nPhenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310\nReview for gene: RPL18 was set to AMBER\nAdded comment: One family and a zebrafish model. \nSources: Expert list",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:59:43.499207+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL18 as ready",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:59:43.491117+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:59:31.715465+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL18 as Amber List (moderate evidence)",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:59:31.705680+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:58:52.182200+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL18 was added\ngene: RPL18 was added to Diamond Blackfan anaemia. Sources: Expert list\nMode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL18 were set to 28280134; 32075953\nPhenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM#\t618310\nReview for gene: RPL18 was set to AMBER\nAdded comment: One family and a zebrafish model. \nSources: Expert list",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:56:00.469112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS15A as ready",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:56:00.460681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps15a has been classified as Red List (Low Evidence).",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:55:45.946243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS15A was added\ngene: RPS15A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS15A were set to 27909223\nPhenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313\nReview for gene: RPS15A was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:54:29.874329+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS15A as ready",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:54:29.866169+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps15a has been classified as Red List (Low Evidence).",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:54:23.729820+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS15A was added\ngene: RPS15A was added to Diamond Blackfan anaemia. Sources: Expert list\nMode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS15A were set to 27909223\nPhenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM#\t618313\nReview for gene: RPS15A was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:52:11.279656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL35 as ready",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:52:11.268746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl35 has been classified as Red List (Low Evidence).",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:52:02.220373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35 was added\ngene: RPL35 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL35 were set to 28280134\nPhenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312\nReview for gene: RPL35 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:51:45.827159+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL35 as ready",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:51:45.811942+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl35 has been classified as Red List (Low Evidence).",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:50:50.050932+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35 was added\ngene: RPL35 was added to Diamond Blackfan anaemia. Sources: Expert list\nMode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL35 were set to 28280134\nPhenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM#\t618312\nReview for gene: RPL35 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:47:12.852990+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GATA1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-06T13:46:47.045776+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ADA2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-06T13:46:00.967378+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS7 as ready",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:46:00.956237+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps7 has been classified as Green List (High Evidence).",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:45:57.787740+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:45:31.850806+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS7 were set to ",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:45:10.272324+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:44:40.144127+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:44:07.728581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS7 as ready",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:44:07.717780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps7 has been classified as Green List (High Evidence).",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:43:59.798086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:43:40.773109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS7 were set to ",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:43:20.580377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:43:01.300642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:42:19.241498+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS7 as ready",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:42:19.232695+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps7 has been classified as Green List (High Evidence).",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:42:16.133262+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:41:49.969783+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS7 were set to ",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:41:21.454422+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:40:53.194908+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:38:26.640497+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS26 as ready",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:38:26.625572+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps26 has been classified as Green List (High Evidence).",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:38:24.069754+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:37:56.358798+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS26 were set to ",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:37:24.954285+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:36:56.643454+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:36:22.329330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS26 as ready",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:36:22.319247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps26 has been classified as Green List (High Evidence).",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:36:03.066154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:35:43.661460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS26 were set to ",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:35:13.001738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:34:53.786401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:33:47.530024+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS26 as ready",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:33:47.522514+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps26 has been classified as Green List (High Evidence).",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:33:45.554534+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:33:07.644563+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS26 were set to ",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:32:38.600424+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:32:08.916741+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:29:55.463899+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS24 as ready",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-03-06T13:29:55.452802+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps24 has been classified as Green List (High Evidence).",
"entity_name": "RPS24",
"entity_type": "gene"
}
]
}