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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1747",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1745",
"results": [
{
"created": "2020-07-03T15:29:15.059103+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEMA3C was added\ngene: SEMA3C was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: SEMA3C was set to Unknown\nPublications for gene: SEMA3C were set to 25839327\nPhenotypes for gene: SEMA3C were set to Hirschsprung disease\nReview for gene: SEMA3C was set to RED\nAdded comment: Common susceptibility loci for Hirschsprung disease. No reported evidence that it is associated with Mendelian disease. \nSources: Expert list",
"entity_name": "SEMA3C",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:16:58.350506+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NRG3 as ready",
"entity_name": "NRG3",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:16:58.340212+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrg3 has been classified as Red List (Low Evidence).",
"entity_name": "NRG3",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:16:44.741693+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRG3 was added\ngene: NRG3 was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: NRG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRG3 were set to 23315268\nPhenotypes for gene: NRG3 were set to Hirschsprung disease\nReview for gene: NRG3 was set to RED\nAdded comment: Single Chinese mother and son reported, and some sporadic cases that appear to have recurrent variants that may be polymorphisms. No functional evidence. \nSources: Expert list",
"entity_name": "NRG3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:54:17.106145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NRG1 as ready",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:54:17.093908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:53:37.594931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NRG1 as Amber List (moderate evidence)",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:53:37.585919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:53:03.320717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRG1 was added\ngene: NRG1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRG1 were set to 22574178; 21706185; 28190554\nPhenotypes for gene: NRG1 were set to Hirschsprung disease\nReview for gene: NRG1 was set to AMBER\nAdded comment: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene (at least one de novo) and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. \nSources: Expert list",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:52:12.369554+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. \nSources: Expert list; to: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene (at least one de novo) and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. \r\nSources: Expert list",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:50:58.376164+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NRG1 as ready",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:50:58.354738+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:50:30.968151+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NRG1 as Amber List (moderate evidence)",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:50:30.954478+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:50:20.503910+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRG1 was added\ngene: NRG1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRG1 were set to 22574178; 21706185; 28190554\nPhenotypes for gene: NRG1 were set to Hirschsprung disease\nReview for gene: NRG1 was set to AMBER\nAdded comment: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. \nSources: Expert list",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:31:50.203284+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:31:50.189660+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:31:45.423627+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAT3 as Amber List (moderate evidence)",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:31:45.415119+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:31:15.816489+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT3 was added\ngene: STAT3 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT3 were set to 20159255\nPhenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome, MIM#\t147060\nReview for gene: STAT3 was set to AMBER\nAdded comment: Craniosynostosis is a rarely described feature of this condition. \nSources: Expert list",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:27:49.741167+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPECC1L were changed from Hypertelorism, Teebi type MIM#145420 to Hypertelorism, Teebi type MIM#145420; Opitz GBBB syndrome, type II, MIM#145410",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:27:16.844177+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPECC1L were set to 26111080; 30472488",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:27:01.958940+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ECE1 as ready",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:27:01.948308+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ece1 has been classified as Red List (Low Evidence).",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:26:55.707812+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ECE1 was added\ngene: ECE1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ECE1 were set to 9915973\nPhenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870\nReview for gene: ECE1 was set to RED\nAdded comment: A single case reported with Arg742Cys. Although this variant causes a loss of function in in vitro assays the NFE AF is higher than expected for a dominant disorder (0.0004, 50/127,302 alleles). \nSources: Expert list",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:26:46.102971+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "commented on gene: FOXI1: Disputed evidence for enlarged vestibular aqueduct PMID: 19204907",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:26:44.777028+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPECC1L as Green List (high evidence)",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:26:44.768307+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: specc1l has been classified as Green List (High Evidence).",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:26:13.380582+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25412741; Phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410; Mode of inheritance: None",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:23:16.018218+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:22:44.700554+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD3 were set to 20301312",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:21:54.512604+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:04:09.485156+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHEX as ready",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:04:09.471538+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:04:03.280498+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHEX as Green List (high evidence)",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:04:03.253662+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:03:34.604477+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHEX was added\ngene: PHEX was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: PHEX was set to Other\nPublications for gene: PHEX were set to 19242361; 17551721\nPhenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM#\t307800\nReview for gene: PHEX was set to GREEN\nAdded comment: Craniosynostosis reported in around ~40% of affected individuals. \nSources: Expert list",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:03:24.424392+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Mouse models have a gastrointestinal neuromuscular phenotype, however there is no evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans. \nSources: Expert list; to: Mouse models have a gastrointestinal neuromuscular phenotype, however there is limited evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans. \r\nSources: Expert list",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:03:10.222856+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NRTN as ready",
"entity_name": "NRTN",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:03:10.213458+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nrtn has been classified as Red List (Low Evidence).",
"entity_name": "NRTN",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:03:03.032744+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRTN was added\ngene: NRTN was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: NRTN was set to Unknown\nPublications for gene: NRTN were set to 21206993; 10069332; 9700200\nPhenotypes for gene: NRTN were set to Hirschsprung disease\nReview for gene: NRTN was set to RED\nAdded comment: A mouse model has a gastrointestinal neuromuscular phenotype, however there is limited evidence that variants in NRTN cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans. \nSources: Expert list",
"entity_name": "NRTN",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:01:29.157349+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: GDNF: Changed publications: 18276829, 8896568, 8657308, 11973622, 21206993",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:00:49.386721+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HB as ready",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:00:49.376637+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:00:28.263993+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: P4HB as Green List (high evidence)",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-07-03T14:00:28.252937+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:59:58.722567+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P4HB was added\ngene: P4HB was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P4HB were set to 25683117; 29384951\nPhenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#\t112240\nReview for gene: P4HB was set to GREEN\nAdded comment: Craniosynostosis is a feature of this syndrome. \nSources: Expert list",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:53:46.057826+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:53:46.047185+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:53:41.317641+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Amber List (moderate evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:53:41.303840+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:52:19.263388+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 29530693; 12244552\nPhenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM#\t118450\nReview for gene: JAG1 was set to AMBER\nAdded comment: Craniosynostosis is rarely described in Alagille syndrome, functional data to support role of JAG1 in suture development. \nSources: Expert list",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:48:54.648951+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IHH as ready",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:48:54.632361+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ihh has been classified as Green List (High Evidence).",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:48:50.431203+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IHH as Green List (high evidence)",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:48:50.417045+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ihh has been classified as Green List (High Evidence).",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:48:19.898077+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IHH was added\ngene: IHH was added to Craniosynostosis. Sources: Expert list\nSV/CNV, 5'UTR tags were added to gene: IHH.\nMode of inheritance for gene: IHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IHH were set to Craniosynostosis, Philadelphia type\nMode of pathogenicity for gene: IHH was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: IHH was set to GREEN\nAdded comment: Green for promoter region 40kb upstream of IHH only. Duplications of 2q35-q36.3 encompassing region 40kb upstream of IHH (within intron of NHEJ1 gene) cause craniosynostosis. Please note SNVs in this gene cause a different phenotype. \nSources: Expert list",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:45:00.738639+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDUA as ready",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:45:00.725792+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Green List (High Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:44:56.442727+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDUA as Green List (high evidence)",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:44:56.433087+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Green List (High Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:44:25.412881+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDUA were set to 23917744\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016\nReview for gene: IDUA was set to GREEN\nAdded comment: Craniosynostosis of at least one suture was present in 77% of 47 MPS individuals (types I,II,VI, VII). >3 with IDUA, IDS, ARSB variants. \nSources: Expert list",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:43:51.483952+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GDNF as ready",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:43:51.471953+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdnf has been classified as Red List (Low Evidence).",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:43:46.248057+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GDNF was added\ngene: GDNF was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDNF were set to 18276829; 8896568; 8657308; 11973622\nPhenotypes for gene: GDNF were set to {Hirschsprung disease, susceptibility to, 3} MIM#613711\nReview for gene: GDNF was set to RED\nAdded comment: Mouse models have a gastrointestinal neuromuscular phenotype, however there is no evidence that variants in GDNF cause Hirschsprung disease or a gastrointestinal neuromuscular disease in humans. \nSources: Expert list",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:42:14.201087+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDS as ready",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:42:14.190938+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ids has been classified as Green List (High Evidence).",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:42:09.678235+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDS as Green List (high evidence)",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:42:09.668962+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ids has been classified as Green List (High Evidence).",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:41:39.525502+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: IDS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDS were set to 15314824\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900\nReview for gene: IDS was set to GREEN\nAdded comment: Craniosynostosis of at least one suture reported as present in 77% of 47 MPS individuals (types I,II,VI, VII). >3 with IDUA, IDS, ARSB variants. \nSources: Expert list",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:34:20.880480+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTAB as ready",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:34:20.867838+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Green List (High Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:34:16.189780+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNPTAB as Green List (high evidence)",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:34:16.180260+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Green List (High Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:33:46.777156+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTAB was added\ngene: GNPTAB was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNPTAB were set to 24891900; 24060719\nPhenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta(I cell disease), MIM# 252500\nReview for gene: GNPTAB was set to GREEN\nAdded comment: Recognised complication of I-cell disease. \nSources: Expert list",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:29:55.789981+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAS as ready",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:29:55.776595+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:29:51.750350+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAS as Amber List (moderate evidence)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:29:51.738201+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnas has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:29:23.041629+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAS were set to 19530187; 26340332; 26267576\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism type 1a, MIM# 103580; Craniosynostosis\nReview for gene: GNAS was set to AMBER\nAdded comment: Craniosynostosis is a rare complication of pseudohyoparathyroidism, a small number of published cases. \nSources: Expert list",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:23:15.920754+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:23:03.482927+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.94",
"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": "2020-07-03T13:22:26.150760+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29215649; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:18:17.677887+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSPP as ready",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:18:17.673182+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Three families altogether, two with the same variant, V18F. One with isolated deafness, two with dental phenotype as well as deafness. Some functional data to support impact on protein. Mouse model has dental phenotype.",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:18:17.637555+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dspp has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:16:37.695861+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSPP were set to 29741433",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:16:00.413638+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSPP were changed from Deafness, autosomal dominant 39, with dentinogenesis, MIM#\t605594 to Deafness, autosomal dominant 39, with dentinogenesis, MIM#\t605594",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:15:38.564623+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSPP were changed from to Deafness, autosomal dominant 39, with dentinogenesis, MIM#\t605594",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:15:17.135807+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSPP were set to ",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:14:55.546146+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSPP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:14:28.550053+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSPP as Amber List (moderate evidence)",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:14:28.540782+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dspp has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:11:08.945385+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:11:08.932771+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:11:04.259709+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MPV17 as Green List (high evidence)",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:11:04.245621+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:10:55.970517+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPV17 were set to 22964873; 28673863; 22593919\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810\nReview for gene: MPV17 was set to GREEN\nAdded comment: Gastrointestinal features including dysmotility have been reported in association biallelic variants in this gene in about 30% of cases with this condition, according to GeneReviews. \nSources: Expert list",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:10:38.617227+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLRT3 as ready",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-07-03T13:10:38.605883+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flrt3 has been classified as Red List (Low Evidence).",
"entity_name": "FLRT3",
"entity_type": "gene"
}
]
}