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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1347",
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"results": [
{
"created": "2021-04-21T11:48:54.613802+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:48:25.896280+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:47:47.576717+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:18:57.028618+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRC1 were changed from Parkinson's disease to Parkinsonism with polyneuropathy, MIM# 619279",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:18:31.952518+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UQCRC1: Changed phenotypes: Parkinsonism with polyneuropathy, MIM# 619279",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:18:18.586840+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRC1 were changed from Parkinson's disease to Parkinsonism with polyneuropathy, MIM# 619279",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:17:41.585135+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UQCRC1: Changed phenotypes: Parkinsonism with polyneuropathy, MIM# 619279",
"entity_name": "UQCRC1",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:15:17.486952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM# 619268; Intellectual disability",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:14:52.984737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzahrani-Kuwahara syndrome, MIM# 619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2021-04-21T10:14:21.950281+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": "Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM#\t619268; Intellectual disability",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:41:23.199475+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:41:23.185760+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:41:20.512189+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:40:50.939434+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:40:28.158235+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:40:03.069839+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:38:37.507515+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:38:37.496525+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:32:43.865265+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:32:14.442840+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:31:46.475841+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:31:15.806636+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:27:06.396031+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:27:06.386806+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:27:01.607172+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:26:34.662236+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:26:11.940076+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:25:47.192438+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:22:08.566372+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:18:32.214321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:18:32.205113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:18:13.834376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:17:57.301344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:17:38.580821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:17:20.967530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:16:29.058924+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:16:29.048416+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:16:25.784675+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:16:02.645952+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:15:39.408780+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:15:07.163579+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:12:23.572370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:12:23.562687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:12:14.498265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:11:56.465578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:11:40.235307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:11:19.891405+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:11:13.272302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:10:43.033405+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:10:05.372585+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T20:09:17.478892+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:20:31.460643+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GP1BA as ready",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:20:31.450346+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1ba has been classified as Green List (High Evidence).",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:20:26.287534+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BA were changed from to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:19:56.920537+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GP1BA were set to ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:19:29.801586+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:19:04.451981+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:18:21.961962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GP1BA were set to ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:17:43.814022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GP1BA as ready",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:17:43.784698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1ba has been classified as Green List (High Evidence).",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:17:37.147803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BA were changed from to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T18:17:19.393477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T17:48:18.622879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T17:08:05.868904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7229",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:07:19.128602+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:06:20.491290+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:06:20.478289+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:06:17.521480+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:05:41.673566+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:05:12.979848+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150, MONDO:0008955, Cockayne syndrome, type B, MIM# 133540, MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800, MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630, MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-20T15:01:15.990596+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:DHCR7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-20T12:39:05.044613+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:39:05.034532+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:39:00.102148+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:36:13.411070+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to ",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:35:46.544761+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:35:19.597254+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:29:18.984087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:28:33.209982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to 30838033; 24700531",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:27:53.075713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:26:57.509138+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:26:57.498743+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:26:54.410736+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:26:26.728848+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to ",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:25:56.051247+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-20T12:25:31.733829+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:15:55.138261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:15:55.117190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:15:46.707048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:15:28.160255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:15:09.246399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:14:50.718587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386, 8797827, 23623389, 17183314, 29105242; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:13:58.645544+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ERCC4: Excision repair defect resulting in a range of phenotypes.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:13:27.123226+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:13:27.110772+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:13:22.629733+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:13:04.933669+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:11:55.882910+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:11:31.762939+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:11:00.171221+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965, MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
}
]
}