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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1263",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1261",
"results": [
{
"created": "2021-07-22T14:49:56.047006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR26 as ready",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:49:56.037365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr26 has been classified as Green List (High Evidence).",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:49:47.721111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:49:28.457411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR26 were set to ",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:49:04.810242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR26 were changed from to Skraban-Deardorff syndrome, MIM#617616",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:48:35.791277+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR26 as ready",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:48:35.779420+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr26 has been classified as Green List (High Evidence).",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:48:31.750851+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR26 were changed from to Skraban-Deardorff syndrome, MIM#617616",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:47:53.986784+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR26 were set to ",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:47:26.812021+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:46:19.951351+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB1 were changed from Syndromic intellectual disability to White-Kernohan syndrome, MIM# 619426; Syndromic intellectual disability",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:45:41.856654+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDB1: Changed phenotypes: White-Kernohan syndrome, MIM# 619426, Syndromic intellectual disability",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:45:22.562404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB1 were changed from Syndromic intellectual disability to White-Kernohan syndrome, MIM#\t619426; Syndromic intellectual disability",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:44:54.811464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDB1: Changed phenotypes: White-Kernohan syndrome, MIM# 619426, Syndromic intellectual disability",
"entity_name": "DDB1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:23:52.011386+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:23:52.001960+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:23:47.473346+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPAA1 as Amber List (moderate evidence)",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:23:47.461316+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:23:38.156068+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPAA1 was added\ngene: GPAA1 was added to Vascular Malformations_Germline. Sources: Literature\nMode of inheritance for gene: GPAA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPAA1 were set to 32533362\nPhenotypes for gene: GPAA1 were set to Vascular anomalies\nReview for gene: GPAA1 was set to AMBER\nAdded comment: A single family identified with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia. \nSources: Literature",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2021-07-22T14:01:52.809766+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15300250, 26551301, 26538304, 20186815, 17334657; Phenotypes: CHARGE syndrome MIM# 214800, Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370, Kallmann syndrome, hypogonadotropic hypogonadism with or without anosmia (HH), Coloboma of the eye, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, Deafness, Delayed pubertal development, CNS malformation, Cleft lip, SCID-like features, lymphopaenia, sever T-cell deficiency, hypogammaglobulinaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-22T11:46:33.406236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8468",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: mmunodeficiency, X-linked, with hyper-IgM MIM# 308230, Severe opportunistic infections (recurrent), idiopathic neutropaenia, dysgammaglobulinaemia hepatitis, cholangitis, cholangiocarcinoma, autoimmune blood cytopenias, haemolytic anaemia, thrombocytopaenia, diarrhoea, peripheral neuroectodermal tumours; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T11:44:49.498110+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230, Severe opportunistic infections (recurrent), idiopathic neutropaenia, dysgammaglobulinaemia hepatitis, cholangitis, cholangiocarcinoma, autoimmune blood cytopenias, haemolytic anaemia, thrombocytopaenia, diarrhoea, peripheral neuroectodermal tumours; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T10:23:41.624815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8468",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: None; Publications: 2872416, 1635567, 17277165, 23590417, 24910257, 18482219, 31921117, 11160319; Phenotypes: Immunodeficiency 17, CD3 gamma deficient MIM# 615607, immune deficiency, autoimmunity, failure to thrive, recurrent gastrointestinal infections, recurrent respiratory infections, autoimmune haemolytic anaemia, bronchiolitis obliterans, low CD3 complex, partial T lymphocytopenia, intractable diarrhoea.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T10:18:54.337132+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: None; Publications: 2872416, 1635567, 17277165, 23590417, 24910257, 18482219, 31921117, 11160319; Phenotypes: Immunodeficiency 17, CD3 gamma deficient MIM# 615607, immune deficiency, autoimmunity, failure to thrive, recurrent gastrointestinal infections, recurrent respiratory infections, autoimmune haemolytic anaemia, Bronchiolitis obliterans, low CD3 complex, partial T lymphocytopenia, intractable diarrhoea.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T10:02:52.843689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8468",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: None; Publications: 28686853, 33506510, 33675273; Phenotypes: Skraban-Deardorff syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-22T10:02:01.379845+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3995",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: None; Publications: 28686853, 33506510, 33675273; Phenotypes: Skraban-Deardorff syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:38:13.567329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD4 as ready",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:38:13.551958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd4 has been classified as Green List (High Evidence).",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:38:08.095069+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD4 were changed from to Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:37:39.160897+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD4 were set to ",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:37:11.502120+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:35:02.555257+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22922874, 31113616, 30651581, 28572511, 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:33:45.176206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:33:22.542479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:26:25.282654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD4 as ready",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:26:25.272304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd4 has been classified as Green List (High Evidence).",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:26:17.551481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD4 were changed from to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:26:00.212523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD4 were set to ",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:25:41.822336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:20:59.109890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:20:59.099832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:20:50.035269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from to Adrenoleukodystrophy MIM#300100",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:20:19.951330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:20:00.204680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is a feature of this progressive disorder. \nSources: Expert list; to: Well established gene-disease association.\r\nSources: Expert list",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:12:06.757095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701; Holoprocencephaly to Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701; Holoprocencephaly",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:11:52.230046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to 31334757; 25575569; 32193685; 31704779",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:11:17.666731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14638363, 32193685, 25575569; Phenotypes: Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:10:11.726168+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:10:11.712863+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:10:09.050192+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities to Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:09:55.097985+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T20:09:43.243989+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14638363, 32193685, 25575569; Phenotypes: Mungan syndrome, MIM# 611376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:05:44.515885+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:05:44.505592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:05:40.239119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:05:05.105760+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:03:12.912386+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:02:38.516028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:01:57.458260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:01:57.448928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:01:50.143548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:01:18.479856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCBE1 were set to ",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:00:55.321033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T18:00:37.443058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:51:19.710649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD27 as ready",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:51:19.700333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:51:12.129520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD27 were changed from to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:50:52.330069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD27 were set to ",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:50:33.872578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:50:14.048731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, CD27-deficiency MIM# 615122, hepatosplenomegaly, reduced CD8+ T-cell function, lymphadenopathy, hepatosplenomegaly, fever, increased susceptibility to EBV infection, aplastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:14:41.532553+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF148 as ready",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:14:41.522567+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf148 has been classified as Green List (High Evidence).",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:13:41.655121+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF148 as Green List (high evidence)",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:13:41.640356+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf148 has been classified as Green List (High Evidence).",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:13:12.069008+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF148 was added\ngene: ZNF148 was added to Callosome. Sources: Literature\nMode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF148 were set to 27964749\nPhenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; MIM#617260\nReview for gene: ZNF148 was set to GREEN\nAdded comment: Four unrelated individuals with de novo heterozygous nonsense or frameshift mutations (all resulting in premature termination codons in the last exon of ZNF148, predicted to escape nonsense-mediated mRNA decay and result in expression of a truncated protein). Phenotype characterised by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional studies to date. \nSources: Literature",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:11:40.607310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF148 as ready",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:11:40.597581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf148 has been classified as Green List (High Evidence).",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:11:33.280922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF148 as Green List (high evidence)",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:11:33.271176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf148 has been classified as Green List (High Evidence).",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:11:04.342401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAC3 as ready",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:11:04.332698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:10:53.098413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAC3 as Green List (high evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2021-07-21T17:10:53.088906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2021-07-21T16:54:21.290897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2021-07-21T16:53:17.617452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to ",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2021-07-21T16:53:02.852856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2021-07-21T16:52:01.740270+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2021-07-21T16:51:31.783061+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to ",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2021-07-21T16:51:07.285084+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2021-07-21T10:53:12.877808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8449",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: ZNF148 was added\ngene: ZNF148 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF148 were set to PMID: 27964749\nPhenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; MIM#617260\nReview for gene: ZNF148 was set to GREEN\nAdded comment: Four unrelated individuals with de novo heterozygous nonsense or frameshift mutations (all resulting in premature termination codons in the last exon of ZNF148, predicted to escape nonsense-mediated mRNA decay and result in expression of a truncated protein). Phenotype characterised by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional studies to date. \nSources: Literature",
"entity_name": "ZNF148",
"entity_type": "gene"
},
{
"created": "2021-07-21T10:46:49.362971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8449",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: RAC3 was added\ngene: RAC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC3 were set to PMID: 30293988; 29276006\nPhenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577\nReview for gene: RAC3 was set to GREEN\nAdded comment: Multiple unrelated individuals with heterozygous missense variants and a concordant phenotype (severe intellectual disability with brain malformations). No functional studies to date. \nSources: Literature",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2021-07-20T20:05:50.836058+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EDN3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-07-20T20:05:40.164629+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-07-20T20:05:40.152750+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-07-20T20:05:37.184884+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from Waardenburg syndrome w/pigmentary abnormalities to Waardenburg syndrome, type 4B, MIM# 613265",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-07-20T20:04:23.622977+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:48:31.055732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA4 as ready",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:48:31.046681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna4 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:48:20.630961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-07-20T16:47:45.768541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA4 were set to ",
"entity_name": "CHRNA4",
"entity_type": "gene"
}
]
}