HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1980",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1978",
"results": [
{
"created": "2020-01-16T20:05:41.870254+11:00",
"panel_name": "Haematuria",
"panel_id": 39,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:04:45.727123+11:00",
"panel_name": "Haematuria",
"panel_id": 39,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CFHR5.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:04:33.586968+11:00",
"panel_name": "Haematuria",
"panel_id": 39,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFHR5: Added comment: Review provided by Danny Gale (UCL):\r\n\r\n4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.; Changed rating: GREEN; Changed publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:02:28.054536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIC1 as ready",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:02:28.047655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:02:14.468151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIC1 as Amber List (moderate evidence)",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:02:14.461344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T20:01:51.373281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIC1 was added\ngene: RIC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIC1 were set to 31932796\nPhenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD\nReview for gene: RIC1 was set to AMBER\nAdded comment: Zebrafish model and consanguineous families but homozygous-by-descent. \nSources: Literature",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:58:21.868646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIC1 as ready",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:58:21.861393+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:58:08.766127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIC1 as Amber List (moderate evidence)",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:58:08.754827+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:57:09.783242+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIC1 was added\ngene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIC1 were set to 31932796\nPhenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD\nReview for gene: RIC1 was set to AMBER\nAdded comment: Zebrafish model and consanguineous families but homozygous-by-descent. \nSources: Literature",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:49:14.385709+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCD as ready",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:49:14.379099+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Green List (High Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:49:11.000217+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBCD as Green List (high evidence)",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:49:10.993381+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Green List (High Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:43:05.233434+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH12 as ready",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-01-16T19:43:05.226297+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh12 has been classified as Green List (High Evidence).",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:30:28.415938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICC1 as ready",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:30:28.407022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicc1 has been classified as Red List (Low Evidence).",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:29:48.258450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:29:22.591967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BICC1 were set to ",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:27:53.514760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICC1 as Red List (low evidence)",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:27:53.508069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicc1 has been classified as Red List (Low Evidence).",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:23:03.147311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BNC2 as ready",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:23:03.139153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bnc2 has been classified as Green List (High Evidence).",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:22:52.165322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BNC2 as Green List (high evidence)",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:22:52.158195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bnc2 has been classified as Green List (High Evidence).",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:22:33.741307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BNC2 was added\ngene: BNC2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BNC2 were set to 31656805; 31051115\nPhenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612\nReview for gene: BNC2 was set to GREEN\ngene: BNC2 was marked as current diagnostic\nAdded comment: At least four unrelated families reported. \nSources: Expert list",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:00:00.865176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX2 as ready",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:00:00.862107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family reported.",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T18:00:00.831188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six2 has been classified as Red List (Low Evidence).",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:59:46.655737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX2 were changed from to CAKUT",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:58:18.208563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX2 were set to ",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:57:56.961281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:57:32.313446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX2 as Red List (low evidence)",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:57:32.306501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six2 has been classified as Red List (Low Evidence).",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:15:15.018883+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to RED\nAdded comment: Ataxia is not a prominent feature of the condition. \nSources: Expert list",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:06:54.821988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRGAP1 as ready",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:06:54.818880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two families reported.",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:06:54.789434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srgap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:06:46.601102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRGAP1 were set to ",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:06:30.872835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:05:57.957082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRGAP1 were changed from to CAKUT",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:05:43.628105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRGAP1 as Amber List (moderate evidence)",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:05:43.621062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srgap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:04:18.476699+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP4 as ready",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:04:18.469401+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp4 has been classified as Green List (High Evidence).",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:04:07.092301+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP4 were changed from to CAKUT",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:03:46.775973+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MKKS as Amber List (moderate evidence)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:03:46.767663+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mkks has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:03:34.927819+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:03:34.276372+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mkks has been classified as Red List (Low Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:03:21.715736+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP4 were set to ",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:03:11.575972+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKKS were set to 15637713\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231\nReview for gene: MKKS was set to AMBER\nAdded comment: Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia. \nSources: Expert list",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:02:36.239294+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:01:21.279863+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DACT1 as ready",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:01:21.276649+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Changed to Red after review against GEL gene-disease assessment.",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:01:21.258149+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dact1 has been classified as Red List (Low Evidence).",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:01:11.594626+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T17:00:26.652654+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:59:41.752845+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:59:36.341535+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:59:36.333564+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:58:54.650277+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome; OMIM #270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:58:10.387711+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR7 were set to ",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:57:23.614897+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:56:38.057610+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF10 were changed from LADD syndrome; OMIM #149730 to LADD syndrome; OMIM #149730",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:56:18.368642+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF10 as ready",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:56:18.360892+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Red List (Low Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:55:27.783645+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF10 were changed from to LADD syndrome; OMIM #149730",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:54:42.347935+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:53:08.028522+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC2 were changed from Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400 to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:52:21.361373+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXC2 were set to 15523639",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:51:45.074107+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC2 as ready",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:51:44.235920+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:51:35.953959+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXC2 were set to ",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:50:50.600951+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:50:06.327277+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC2 were changed from to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:49:21.292148+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:47:24.405958+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL4 were changed from SALL4- related disorders to SALL4- related disorders",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:47:01.661015+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SALL4 as ready",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:47:00.933529+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall4 has been classified as Green List (High Evidence).",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:46:39.126615+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL4 were changed from to SALL4- related disorders",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:42:57.624762+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EXOSC3 as ready",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:42:57.618206+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: exosc3 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:42:44.539621+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Ataxia is not a prominent feature of the phenotype \nSources: Expert list; to: Ataxia is not a prominent feature of the phenotype \r\nSources: Expert list",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:42:30.368644+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678\nAdded comment: Ataxia is not a prominent feature of the phenotype \nSources: Expert list",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:39:51.983912+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SALL4 were set to ",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:39:05.966109+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:38:35.824365+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELOVL1 was added\ngene: ELOVL1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527\nReview for gene: ELOVL1 was set to RED\nAdded comment: Ataxia is not a prominent feature of this condition. \nSources: Expert list",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:35:21.958551+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030\nAdded comment: Ataxia is not a prominent feature of the phenotype \nSources: Expert list",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:29:52.295091+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ5 was added\ngene: COQ5 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ5 were set to 29044765\nPhenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability\nReview for gene: COQ5 was set to RED\nAdded comment: Only one reported family, without functional assays linking the gene to ataxia. \nSources: Expert list",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:22:39.628947+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHMP1A was added\ngene: CHMP1A was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8, 614961\nReview for gene: CHMP1A was set to RED\nAdded comment: Ataxia is not a prominent feature of the phenotype. \nSources: Expert list",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:21:35.512987+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.72",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: PCDH12 as Green List (high evidence)",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:21:35.505919+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.72",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: pcdh12 has been classified as Green List (High Evidence).",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:19:24.597963+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCDC28B was added\ngene: CCDC28B was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900\nReview for gene: CCDC28B was set to RED\nAdded comment: Modifier of BBS \nSources: Expert list",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:12:40.233306+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986\nReview for gene: BBS9 was set to RED\nAdded comment: Ataxia is not a reported feature of the phenotype for this subtype of BBS. \nSources: Expert list",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:11:26.484029+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984\nReview for gene: BBS7 was set to RED\nAdded comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS. \nSources: Expert list",
"entity_name": "BBS7",
"entity_type": "gene"
}
]
}