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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1773",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1771",
"results": [
{
"created": "2020-06-05T09:59:05.863175+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1cb has been classified as Green List (High Evidence).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:59:00.590839+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:58:29.702999+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1CB were set to ",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:58:00.991324+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:57:17.468776+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32476286, 28211982, 27264673, 27681385, 27868344; Phenotypes: Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:52:37.714761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1CB as ready",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:52:37.706291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1cb has been classified as Green List (High Evidence).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:52:25.089693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:52:01.442883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1CB were set to ",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:51:37.255306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:51:12.913432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32476286, 28211982, 27264673, 27681385, 27868344; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:48:14.392476+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1CB as ready",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:48:14.383953+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1cb has been classified as Green List (High Evidence).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:44:06.088287+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PPP1CB as Green List (high evidence)",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:44:06.079245+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ppp1cb has been classified as Green List (High Evidence).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:43:31.723285+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PPP1CB was added\ngene: PPP1CB was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP1CB were set to PMID: 32476286; 28211982; 27264673; 27681385; 27868344\nPhenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506\nReview for gene: PPP1CB was set to GREEN\nAdded comment: > 20 patients reported from different families and different ethnicities with Noonan syndrome-like features and hair abnormalities. All patients so far with missense variants. \nSources: Literature",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:32:46.233206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP88 as ready",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:32:46.219567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:32:34.414963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP88 as Green List (high evidence)",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:32:34.402593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:32:14.509036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP88 was added\ngene: NUP88 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP88 were set to 30543681\nPhenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393\nReview for gene: NUP88 was set to GREEN\nAdded comment: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model. \nSources: Literature",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:30:20.199433+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP88 as ready",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:30:20.186055+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:30:03.170992+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP88 as Green List (high evidence)",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:30:03.158820+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:29:33.902736+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families and a zebrafish model reported. \nSources: Literature; to: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model. \r\nSources: Literature",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:29:03.129573+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP88: Changed rating: GREEN; Changed phenotypes: Fetal akinesia deformation sequence 4, MIM# 618393",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:28:37.540400+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP88 was added\ngene: NUP88 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP88 were set to 30543681\nPhenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM#\t618393\nReview for gene: NUP88 was set to AMBER\nAdded comment: Two unrelated families and a zebrafish model reported. \nSources: Literature",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:13:58.571101+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:13:58.562023+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:13:38.722993+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMO as Green List (high evidence)",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:13:38.714352+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:13:09.655687+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMO were set to 32413283\nPhenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis\nReview for gene: SMO was set to GREEN\nAdded comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). \nSources: Literature",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:11:24.821214+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SMO.",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:10:44.063997+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:10:44.053734+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:10:38.865166+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMO as Green List (high evidence)",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:10:38.853613+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:09:25.299557+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Hirschsprung disease. Sources: Literature\nMode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMO were set to 32413283\nPhenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis\nReview for gene: SMO was set to GREEN\nAdded comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). \nSources: Literature",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:05:44.839189+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:05:44.828086+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:05:40.133982+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMO as Green List (high evidence)",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:05:40.125003+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:05:03.675627+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMO were set to 32413283\nPhenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis\nReview for gene: SMO was set to GREEN\nAdded comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). \nSources: Literature",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:03:09.623694+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-05T09:01:44.560551+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:01:44.548062+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:01:41.350437+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMO were changed from to Curry-Jones syndrome, somatic mosaic 601707",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:01:11.662554+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMO were set to ",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:00:41.105845+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMO was changed from Unknown to Other",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:00:09.595570+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: Other",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:58:56.190127+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SMO.",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:57:57.006648+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:57:56.997928+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:57:37.567760+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMO were changed from to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:57:13.822575+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMO were set to ",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:56:51.003515+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:56:19.923291+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 32413283, 27236920; Phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:53:54.987949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMO as ready",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:53:54.975741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smo has been classified as Green List (High Evidence).",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:53:43.783781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMO were changed from to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:53:12.085838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMO were set to ",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:52:36.483337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-05T08:51:21.475383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 32413283, 27236920; Phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:27:42.159360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBL2 as ready",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:27:42.147172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Red List (Low Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:26:58.576454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBL2 was added\ngene: RBL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBL2 were set to 32105419; 9806916\nPhenotypes for gene: RBL2 were set to Intellectual disability\nReview for gene: RBL2 was set to RED\nAdded comment: Single family reported with pair of affected siblings. Supportive mouse model. \nSources: Literature",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:25:30.072750+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBL2 as ready",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:25:30.051380+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Red List (Low Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:25:17.981504+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBL2 was added\ngene: RBL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBL2 were set to 32105419; 9806916\nPhenotypes for gene: RBL2 were set to Intellectual disability\nReview for gene: RBL2 was set to RED\nAdded comment: Single family reported with pair of affected siblings. Supportive mouse model. \nSources: Literature",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:18:17.871774+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM7 as ready",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:18:17.858390+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:18:12.087965+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRM7 as Green List (high evidence)",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:18:12.076198+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:17:41.631944+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM7 was added\ngene: GRM7 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM7 were set to 32286009; 32248644\nPhenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay\nReview for gene: GRM7 was set to GREEN\nAdded comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model. \nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:16:07.394407+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM7 as ready",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:16:07.384780+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:15:57.641917+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRM7 as Green List (high evidence)",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:15:57.629859+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:15:22.277330+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM7 was added\ngene: GRM7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM7 were set to 32286009; 32248644\nPhenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay\nReview for gene: GRM7 was set to GREEN\nAdded comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model. \nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:14:45.164394+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM7 as ready",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:14:45.153663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:13:35.956954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM7 as ready",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:13:35.943492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:13:25.895098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRM7 as Green List (high evidence)",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:13:25.886524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:13:02.073042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM7 was added\ngene: GRM7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM7 were set to 32286009; 32248644\nPhenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay\nReview for gene: GRM7 was set to GREEN\nAdded comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model. \nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:11:04.682202+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRM7 as Green List (high evidence)",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:11:04.673578+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm7 has been classified as Green List (High Evidence).",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:10:33.169118+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM7 was added\ngene: GRM7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM7 were set to 32286009; 32248644\nPhenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay\nReview for gene: GRM7 was set to GREEN\nAdded comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. \nSources: Literature",
"entity_name": "GRM7",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:00:49.875260+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGM as ready",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T21:00:49.866698+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Green List (High Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:33:33.921344+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGM were set to 32386344",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:33:09.794471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGM as ready",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:33:09.780951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Green List (High Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:32:57.254675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGM were changed from to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:32:29.005784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGM were set to ",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:32:08.099507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:32:00.137434+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGM were changed from to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2020-06-04T20:31:46.452922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32386344; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
}
]
}