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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1981",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1979",
"results": [
{
"created": "2020-01-16T16:09:57.205281+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBS5 were set to 15637713\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983\nReview for gene: BBS5 was set to RED\nAdded comment: Ataxia is not a common feature reported with this subtype of BBS. One family with linkage to BBS5 (not sequenced) has been reported with ataxia. \nSources: Expert list",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:07:07.551019+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982\nReview for gene: BBS4 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": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-01-16T16:04:32.266939+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBS2 were set to 15637713\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981\nReview for gene: BBS2 was set to RED\nAdded comment: Ataxia is not a reported common feature of this subtype of BBS. Ataxia may be present in one family with BBS2, but not stated outright in the publication (18/21 families had ataxia and there was only one BBS2 family). \nSources: Expert list",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:48:12.059220+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989\nAdded comment: Ataxia is not a reported feature of the phenotype. \nSources: Expert list",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:46:13.837505+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987\nReview for gene: BBS10 was set to RED\nAdded comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1. \nSources: Expert list",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:45:15.663976+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.71",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to 27164683; 22822038\nPhenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1\nPenetrance for gene: PCDH12 were set to Complete\nReview for gene: PCDH12 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:43:54.843658+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARL6 as ready",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:43:54.836919+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl6 has been classified as Red List (Low Evidence).",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:43:47.538296+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151\nReview for gene: ARL6 was set to RED\nAdded comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1. \nSources: Expert list",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:41:23.324629+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX1 were changed from Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192 to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:40:59.666959+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX1 as ready",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:40:59.658656+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six1 has been classified as Red List (Low Evidence).",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:40:35.310126+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX1 were changed from to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:40:01.131240+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:40:00.478265+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Red List (Low Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:39:43.800822+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Ataxia - paediatric_RMH. Sources: Other\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809\nReview for gene: AMPD2 was set to RED\nAdded comment: Ataxia is not a reported feature of this condition. \nSources: Other",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:38:35.683507+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.48",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301547; Phenotypes: SALL4- related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:37:35.705577+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.48",
"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": "2020-01-16T15:36:10.801175+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX1 as Red List (low evidence)",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:36:10.794094+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six1 has been classified as Red List (Low Evidence).",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:35:17.999236+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM#608389, Deafness, autosomal dominant 23, MIM# 605192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:27:20.935482+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM58A as ready",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:27:20.312426+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam58a has been classified as Green List (High Evidence).",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:19:31.132821+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31513549; Phenotypes: Megabladder, congenital heart disease, cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:15:16.262526+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BBS1 as ready",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:15:16.253953+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Green List (High Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:15:14.672767+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BBS1 as Green List (high evidence)",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:15:14.665849+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Green List (High Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:15:03.608540+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBS1 were set to 15637713\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900\nReview for gene: BBS1 was set to GREEN\nAdded comment: Ataxia is a common feature of the phenotype \nSources: Expert list",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:11:06.600898+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZNF423 as ready",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:11:06.593909+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:10:55.139927+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Red List (low evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:10:55.132812+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:10:44.037250+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 19, 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:01:41.441460+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FOXC2 as Red List (low evidence)",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:01:41.431119+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.46",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:00:47.666056+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:00:39.892509+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:00:35.747483+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:00:35.736784+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:00:23.704530+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T15:00:23.404908+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:59:54.699061+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15523639; Phenotypes: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, OMIM #153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:59:49.004770+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:59:48.989077+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:59:04.979936+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:59:04.971964+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:58:20.806094+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:58:20.796980+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:57:59.500028+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR2 as ready",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:57:59.492032+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:57:35.780342+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:57:35.773813+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:56:52.142751+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Red List (low evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:56:52.135002+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:56:25.553753+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:56:07.299890+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM58A were changed from to STAR syndrome, MIM# 300707",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:55:26.234137+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGFR2 as Red List (low evidence)",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:55:26.225107+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr2 has been classified as Red List (Low Evidence).",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:55:19.833004+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: FGFR3: Not a prominent features of FGFR3 related disorders",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:54:54.721026+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:54:13.327209+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:53:24.320239+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM58A were set to ",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:52:45.179765+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM58A was changed from Other to Other",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:51:45.446855+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGF10 as Red List (low evidence)",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:51:45.439197+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Red List (Low Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:51:04.135120+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FGF10 as Red List (low evidence)",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:51:04.128144+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Red List (Low Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:50:15.178715+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LADD syndrome, OMIM #149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:50:14.279757+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM58A was changed from Unknown to Other",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:49:11.080557+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28225384, 18297069; Phenotypes: STAR syndrome, MIM# 300707; Mode of inheritance: Other",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:43:16.644801+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3812577, 10069707, 23059950, 9678700; Phenotypes: Smith-Lemli-Opitz syndrome, OMIM #270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:41:46.932139+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COQ7 as Amber List (moderate evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:41:46.919509+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:41:07.878484+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COQ7 as Amber List (moderate evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:41:07.870146+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:40:26.100107+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DACT1 as Red List (low evidence)",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:40:26.090106+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"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": "2020-01-16T14:39:45.231034+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COQ7 as Amber List (moderate evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:39:45.224063+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:39:02.548113+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COQ7 as Amber List (moderate evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:39:02.540169+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:38:17.848900+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COQ7 as Amber List (moderate evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:38:17.842093+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:37:24.256179+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: only one patient with mito disease and happened to have hypoplastic kidneys.; to: only 2 patients reported",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:35:30.713731+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COQ7 as Red List (low evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:35:30.702863+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Red List (Low Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:34:33.435929+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: COQ7: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 26084283; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM #616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2020-01-16T14:15:32.270910+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30568244, 24131739, 23641053, 19685083; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-01-16T13:47:36.727427+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: TBCD was added\ngene: TBCD was added to Arthrogryposis. Sources: Literature\numccr tags were added to gene: TBCD.\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCD were set to 27666370; 27666374\nPhenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM\nPenetrance for gene: TBCD were set to Complete\nReview for gene: TBCD was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T13:47:15.130905+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: TBCD was added\ngene: TBCD was added to Arthrogryposis. Sources: Literature\numccr tags were added to gene: TBCD.\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCD were set to 27666370; 27666374\nPhenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM\nPenetrance for gene: TBCD were set to Complete\nReview for gene: TBCD was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-16T11:05:42.796320+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Complement deficiencies to Complement Deficiencies\nPanel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T11:02:10.958934+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Combined immunodeficiency to Combined Immunodeficiency\nPanel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T10:50:14.987039+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Cobblestone malformations to Cobblestone Malformations\nPanel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T10:46:44.107509+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T10:45:21.651800+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Ciliary dyskinesia to Ciliary Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T10:44:25.819907+11:00",
"panel_name": "Ciliary dyskinesia",
"panel_id": 82,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T10:43:01.048694+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Chromosome breakage disorders to Chromosome Breakage Disorders\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-16T10:05:16.260882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TET3 as ready",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2020-01-16T10:05:16.253691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet3 has been classified as Green List (High Evidence).",
"entity_name": "TET3",
"entity_type": "gene"
}
]
}