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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1561",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1559",
"results": [
{
"created": "2020-10-02T22:52:12.243490+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3047",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27479907, 32817298; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:53:47.932252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX1 as ready",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:53:47.920960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six1 has been classified as Green List (High Evidence).",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:53:40.260049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX1 were changed from to Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:53:23.391660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX1 were set to ",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:53:06.939085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:52:50.271227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807; Phenotypes: Deafness, autosomal dominant 23, MIM# 605192, Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:51:17.920631+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX1 as ready",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:51:17.911494+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six1 has been classified as Green List (High Evidence).",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:51:15.591133+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX1 were changed from to Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:50:53.632011+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX1 were set to ",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:50:26.513556+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:49:57.279857+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807; Phenotypes: Deafness, autosomal dominant 23, MIM# 605192, Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:45:19.052823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRQ as ready",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:45:19.040971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptprq has been classified as Green List (High Evidence).",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:45:10.877174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:44:54.114771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPRQ were set to ",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:44:36.178002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:44:18.788957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPRQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630; Phenotypes: Deafness, autosomal recessive 84A, MIM# 613391, Deafness, autosomal dominant 73, MIM# 617663; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:43:18.293354+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRQ were changed from Deafness, autosomal recessive 84A, MIM# 613391 to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM#\t617663",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:42:44.282797+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPRQ: Changed phenotypes: Deafness, autosomal recessive 84A, MIM# 613391, Deafness, autosomal dominant 73, MIM# 617663",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:42:30.909400+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRQ as ready",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:42:30.900801+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptprq has been classified as Green List (High Evidence).",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:41:30.345022+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:41:01.748945+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPRQ were set to ",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:40:35.137719+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:39:53.879444+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPRQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630; Phenotypes: Deafness, autosomal recessive 84A, MIM# 613391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:31:59.638802+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPS1 as ready",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:31:59.626078+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:31:57.256123+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from to Deafness, X-linked 1, MIM# 304500; Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Arts syndrome, MIM# 301835",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:31:26.975706+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRPS1 were set to ",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:31:04.822754+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:30:38.128179+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512; Phenotypes: Deafness, X-linked 1, MIM# 304500, Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070, Arts syndrome, MIM# 301835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:25:05.420048+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The hearing loss in DFNA15 individuals is progressive, with a highly variable age of onset between the second and fifth decades of life. The mechanism for disease is likely haploinsufficiency, due to the wide variant spectrum, however mice require only one copy of the functional gene to retain hearing. Over 80 affected individuals reported. Gene-disease association is supported by multiple lines of functional evidence.; to: The hearing loss in DFNA15 individuals is progressive, with a highly variable age of onset between the second and fifth decades of life. The mechanism for disease is likely haploinsufficiency, due to the wide variant spectrum, however mice require only one copy of the functional gene to retain hearing. Over 80 affected individuals reported. Gene-disease association is supported by multiple lines of functional evidence. DEFINITIVE by ClinGen.",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:24:29.902709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU4F3 as ready",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:24:29.892061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou4f3 has been classified as Green List (High Evidence).",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:24:23.743028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU4F3 were changed from to Deafness, autosomal dominant 15, MIM# 602459",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:24:05.747965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POU4F3 were set to ",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:23:39.060548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POU4F3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:23:17.571502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU4F3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18228599, 9506947, 20434433, 28545070, 15254021, 8637595; Phenotypes: Deafness, autosomal dominant 15, MIM# 602459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:22:11.668595+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU4F3 as ready",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:22:11.658620+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou4f3 has been classified as Green List (High Evidence).",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:22:09.076225+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU4F3 were changed from to Deafness, autosomal dominant 15, MIM# 602459",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:21:41.676874+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POU4F3 were set to ",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:21:17.057647+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POU4F3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:20:52.825003+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU4F3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18228599, 9506947, 20434433, 28545070, 15254021, 8637595; Phenotypes: Deafness, autosomal dominant 15, MIM# 602459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:17:08.693361+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDZD7 as ready",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:17:08.680033+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd7 has been classified as Green List (High Evidence).",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:17:05.925096+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDZD7 were changed from to Deafness, autosomal recessive 57, MIM# 618003",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:16:41.147894+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDZD7 were set to ",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:16:17.226216+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-10-02T20:15:48.033574+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19028668, 26416264, 26849169, 27068579, 26445815, 28173822, 24334608; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:24:24.083770+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGSF10: Changed rating: AMBER",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:24:16.952550+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGSF10 as ready",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:24:16.939352+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igsf10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:24:13.907988+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGSF10 as Amber List (moderate evidence)",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:24:13.899979+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igsf10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:23:41.563617+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGSF10 was added\ngene: IGSF10 was added to Disorders of Sex Differentiation. Sources: Expert list\nMode of inheritance for gene: IGSF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGSF10 were set to 27137492; 31042289\nPhenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency\nAdded comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance. \nSources: Expert list",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:21:31.512775+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KPTN as ready",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:21:31.500240+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kptn has been classified as Green List (High Evidence).",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:21:26.658870+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KPTN as Green List (high evidence)",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:21:26.650734+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kptn has been classified as Green List (High Evidence).",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:21:04.357852+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KPTN was added\ngene: KPTN was added to Macrocephaly_Megalencephaly. Sources: Expert Review\nMode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KPTN were set to 24239382; 32358097; 32808430\nPhenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41 (MIM#615637)\nReview for gene: KPTN was set to GREEN\nAdded comment: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430). \nSources: Expert Review",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:18:19.322405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KPTN as ready",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:18:19.313439+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kptn has been classified as Green List (High Evidence).",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:18:08.960647+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KPTN were changed from to Mental retardation, autosomal recessive 41 (MIM#615637)",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:17:43.127738+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KPTN were set to ",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:17:11.555967+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KPTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:16:41.766990+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Mental retardation, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:16:00.707432+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KPTN were set to 25847626; 24239382; 32358097; 32808430",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:15:45.693635+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KPTN were set to 25847626; 24239382",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:15:19.052855+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KPTN as Green List (high evidence)",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:15:19.042651+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kptn has been classified as Green List (High Evidence).",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:13:44.024253+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KPTN: Added comment: Two further publications (PMID 32358097; 32808430), more individuals reported with seizures, upgrade to Green.; Changed rating: GREEN; Changed publications: 25847626, 24239382, 32358097, 32808430",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:13:17.338270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KPTN as ready",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:13:17.327339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kptn has been classified as Green List (High Evidence).",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:12:59.194846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KPTN were changed from to Mental retardation, autosomal recessive 41 (MIM#615637)",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:12:38.037721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KPTN were set to ",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:10:05.731509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KPTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:09:30.311359+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOBTB2 as ready",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:09:30.301466+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:09:27.837518+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOBTB2 were changed from Paroxysmal movement disorder to Epileptic encephalopathy, early infantile, 64, MIM#\t618004; Paroxysmal movement disorder",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:08:59.495250+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOBTB2 as Green List (high evidence)",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:08:59.484274+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:08:31.638451+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM# 618004; Mode of inheritance: None",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:08:01.046180+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOBTB2 as ready",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:08:01.033679+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:07:56.762771+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOBTB2 were changed from Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 64, MIM#\t618004; Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:07:26.683345+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOBTB2 as Green List (high evidence)",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:07:26.672765+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:06:59.322097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHS1 as ready",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:06:59.311501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphs1 has been classified as Green List (High Evidence).",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:06:53.654518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHS1 were changed from to Nephrotic syndrome, type 1, MIM# 256300",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:06:06.303578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:05:32.885833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTI2 as ready",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:05:32.875187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti2 has been classified as Green List (High Evidence).",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:05:26.390386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI2 were changed from to Mental retardation, autosomal recessive 39, MIM#615541",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:05:10.487601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTI2 were set to ",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:04:53.571096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2020-10-02T17:04:35.607782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32061250, 23956177, 31737043; Phenotypes: Mental retardation, autosomal recessive 39, MIM#615541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI2",
"entity_type": "gene"
}
]
}