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{
"count": 221273,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1936",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1934",
"results": [
{
"created": "2020-02-07T16:54:51.458745+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL3 as ready",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:54:51.453321+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:54:47.737694+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL3 were changed from to Autism",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:54:15.514642+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL3 were set to ",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:53:24.393518+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:52:36.358664+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495309, 22914163, 25363760, 27824329; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:49:05.176521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31844624, 29351582, 26427993; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Myopia 6, Charcot-Marie-Tooth type 4, Cerebellar ataxia and progressive peripheral axonal neuropthy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:48:38.278692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28752568, 12865757; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:45:44.848940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: AHI1: Functional assays using zebrafish model support that the C-terminal SH3 domain is not required (PMID: 25616960)",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:45:42.802585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25616960; Phenotypes: Joubert syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:34:10.327515+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAN1 as Green List (high evidence)",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:34:10.322035+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fan1 has been classified as Green List (High Evidence).",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:34:08.124256+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAN1 as ready",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:34:08.115778+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fan1 has been classified as Green List (High Evidence).",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:32:37.780450+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAN1 as Green List (high evidence)",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:32:37.774483+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fan1 has been classified as Green List (High Evidence).",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:17:04.346917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16380904; Phenotypes: Peeling skin syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:14:46.959381+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAN1 was added\ngene: FAN1 was added to Renal Tubulointerstitial Disease. Sources: Expert Review\nMode of inheritance for gene: FAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic, MIM#\t614817\nReview for gene: FAN1 was set to GREEN\nAdded comment: Phenotypic overlap. \nSources: Expert Review",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:14:15.449221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22144912; Phenotypes: ?Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy, limb-girdle; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:03:07.246332+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP11B1 as Amber List (moderate evidence)",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:03:07.235111+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:02:56.269641+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP11B1 as ready",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:02:56.256950+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:02:23.138662+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP11B1 as Amber List (moderate evidence)",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:02:23.127716+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T16:00:43.657969+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B1 was added\ngene: CYP11B1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert Review\nMode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYP11B1 were set to 1731223; 29703198\nPhenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM#\t103900\nReview for gene: CYP11B1 was set to AMBER\nAdded comment: Chimeric protein caused by structural rearrangement. Bi-allelic variants cause CAH. \nSources: Expert Review",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:52:10.903622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPG2 as ready",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:52:10.893644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspg2 has been classified as Green List (High Evidence).",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:51:53.654548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPG2 were changed from to Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:51:31.929821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPG2 were set to ",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:51:11.450351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:50:27.957464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BEST1 as ready",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:50:27.946907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: best1 has been classified as Green List (High Evidence).",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:50:17.440244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: BEST1 was changed from to Other",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:50:13.394548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1285",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: WNT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19559398, 30426266; Phenotypes: Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:49:59.322679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BEST1 were set to ",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:49:28.966769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BEST1 were changed from to Bestrophinopathy, autosomal recessive, MIM#\t611809; Macular dystrophy, vitelliform, 2 MIM#\t153700; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM#\t193220; Retinitis pigmentosa-50, MIM#\t613194; Retinitis pigmentosa, concentric, MIM#\t61319; Vitreoretinochoroidopathy,MIM#\t193220",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:46:44.771986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BEST1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:45:19.832412+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGBP1 as ready",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:45:19.821298+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igbp1 has been classified as Red List (Low Evidence).",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:45:09.427416+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:44:35.867911+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGBP1 were set to ",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:43:33.064668+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGBP1 as Red List (low evidence)",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:43:33.049631+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igbp1 has been classified as Red List (Low Evidence).",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:42:57.394925+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:42:18.453032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGBP1 as ready",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:42:18.442683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igbp1 has been classified as Red List (Low Evidence).",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:42:10.137732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGBP1 were changed from Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:42:09.373988+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGBP1 as ready",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:42:09.354711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igbp1 has been classified as Red List (Low Evidence).",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:41:57.473541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:41:33.647094+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:41:03.943469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGBP1 were set to ",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:41:02.581102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGBP1 were set to 14556245",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:40:43.304541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:40:29.226358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGBP1 as Red List (low evidence)",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:40:29.213541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igbp1 has been classified as Red List (Low Evidence).",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:40:20.935390+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGBP1 were set to ",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:40:06.922620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:39:48.564051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:39:19.510383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGBP1 as Red List (low evidence)",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:39:19.499587+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igbp1 has been classified as Red List (Low Evidence).",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:38:26.891307+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:36:45.623259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1278",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29668979; Phenotypes: Bestrophinopathy, Macular dystrophy, vitelliform, 2, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa-50, Retinitis pigmentosa, concentric, Vitreoretinochoroidopathy; Mode of inheritance: None",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2020-02-07T15:19:30.327529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1278",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16927315; Phenotypes: Dyssegmental dysplasia, Silverman-Handmaker type, Schwartz-Jampel syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:56:57.663654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78, MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:55:18.155577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:55:18.145007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:55:07.557658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:54:51.319183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM#309530",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:54:03.297998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IQSEC2 was changed from to Other",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:53:33.831607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:44:09.770516+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTT as ready",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:44:09.759902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htt has been classified as Amber List (Moderate Evidence).",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:43:59.027454+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HTT as Amber List (moderate evidence)",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:43:59.003152+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htt has been classified as Amber List (Moderate Evidence).",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:42:57.454158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTT was added\ngene: HTT was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: HTT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HTT were set to 26740508; 27329733\nPhenotypes for gene: HTT were set to Lopes-Maciel-Rodan syndrome, 617435; LOMARS; Intellectual disability\nReview for gene: HTT was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic variants in this gene and a neurodevelopmental phenotype. \nSources: Expert list",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-02-07T14:20:04.902762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1274",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:44:36.859035+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-07T13:20:28.718603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Growth delay, microcephaly and intellectual disability",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:20:17.354880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4C as ready",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:20:17.339418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:19:58.680728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from to Growth delay, microcephaly and intellectual disability",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:19:30.634068+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to 28920961",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:18:59.656737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to ",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:18:30.287910+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:17:47.424484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4C as Amber List (moderate evidence)",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:17:47.413575+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:17:05.171480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: None; Publications: 28920961; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:03:52.425549+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC2 as ready",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:03:52.414916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:03:41.093202+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, MIM# 615516 to Mental retardation, autosomal recessive 38, MIM# 615516",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:02:53.484740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:02:17.842123+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38, MIM# 615516",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:01:48.924966+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC2 were set to ",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:01:10.353618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HERC2 as Amber List (moderate evidence)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:01:10.343178+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:00:09.869436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HERC2 as Amber List (moderate evidence)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T13:00:09.857556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-02-07T12:59:28.210799+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HERC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23243086, 23065719; Phenotypes: Mental retardation, autosomal recessive 38 615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC2",
"entity_type": "gene"
}
]
}