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"count": 216110,
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"results": [
{
"created": "2018-11-19T13:44:32.448403Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CRADD.",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:44:15.973203Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: CRADD: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "CRADD",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:44:00.306310Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: COL9A3.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:43:53.539958Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: COL9A3: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:43:39.205650Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: COL2A1.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:43:32.424474Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: COL2A1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:43:12.975997Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CLTC.",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:43:04.535317Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: CLTC: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:42:51.353854Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CHRNA2.",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:42:41.895414Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: CHRNA2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:42:29.446694Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: CACNB4.",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:42:21.972604Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: CACNB4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:42:19.200910Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.545",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: ?PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:41:18.038722Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: BGN.",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:40:33.030266Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: BGN: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:55.492365Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ATAD3A: Added watchlist tag to highlight different DD-G2P ratings for this gene.",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:43.989741Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ATAD3A.",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:31.016799Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ANO5.",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:30.309167Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.545",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: EIF3F as Green List (high evidence)",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:30.306136Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.545",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:30.254754Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.545",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:23.075573Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ANO5: Added watchlist tag to highlight different DD-G2P ratings for this gene.",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:00.095681Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on publications: 100000 and 22366783 provided in original DDG2P download.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:39:00.083282Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: ACTB were set to 100000",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:38:38.817940Z",
"panel_name": "White matter disorders - childhood onset",
"panel_id": 496,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Childhood onset leukodystrophy; GMS R109",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:37:52.858212Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: ACTB: Added watchlist tag to highlight different DD-G2P ratings for this gene.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:37:49.564072Z",
"panel_name": "Cerebral malformations",
"panel_id": 491,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Cerebral malformation; GMS R87",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:37:30.445233Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:37:11.693536Z",
"panel_name": "Hypotonic infant",
"panel_id": 490,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Floppy infant with a likely central cause; GMS R69",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:35:38.313277Z",
"panel_name": "Hereditary ataxia and cerebellar anomalies - childhood onset",
"panel_id": 488,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Hereditary ataxia with onset in childhood; GMS R55 to Hereditary ataxia with onset in childhood; GMS R55; Cerebellar anomalies; GMS R84",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:35:19.489688Z",
"panel_name": "Hereditary ataxia and cerebellar anomalies - childhood onset",
"panel_id": 488,
"panel_version": "0.4",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Hereditary ataxia with onset in childhood; GMS R55",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:34:50.661631Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.544",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RHOBTB2 as Green List (high evidence)",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:34:50.657618Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.544",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:34:50.637660Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.544",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:34:33.782763Z",
"panel_name": "Cystic renal disease",
"panel_id": 487,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Cystic renal disease - PKD1; GMS R193",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:34:06.032936Z",
"panel_name": "Paediatric disorders",
"panel_id": 486,
"panel_version": "0.8",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Acutely unwell children with a likely monogenic disorder; GMS R14 to Acutely unwell children with a likely monogenic disorder; GMS R14; Congenital malformation and dysmorphism syndromes - microarray and sequencing; GMS R27",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:33:27.453231Z",
"panel_name": "Paediatric disorders",
"panel_id": 486,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Acutely unwell children with a likely monogenic disorder; GMS R14",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:32:50.451808Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "0.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Likely inborn error of metabolism - targeted testing not possible; GMS R98",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:32:08.420708Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.543",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Intellectual disability panel",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:32:08.401931Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.543",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RHOBTB2 were changed from Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly to Epileptic encephalopathy, early infantile, 64, 618004; Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:32:02.826920Z",
"panel_name": "Hereditary ataxia - adult onset",
"panel_id": 466,
"panel_version": "0.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Hereditary ataxia with onset in adulthood; GMS R54",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:31:47.849322Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: TMEM5.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:31:41.125611Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: TMEM5: Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1.",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:31:28.856687Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE.",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:31:22.876581Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C2orf71.",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:31:01.279732Z",
"panel_name": "Neuromuscular disorders",
"panel_id": 465,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Other rare neuromuscular disorders; GMS R381",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:30:55.733307Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: C4orf26: Added new-gene-name tag, new approved HGNC gene symbol is ODAPH.",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:30:38.867370Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C4orf26.",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:30:26.148360Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:30:18.768237Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:30:07.911578Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "1.129",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Unexplained skeletal dysplasia to Unexplained skeletal dysplasia; Skeletal dysplasia; GMS R104",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:30:02.930255Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C21orf2.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:29:55.679583Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: C21orf2: Added new-gene-name tag, new approved HGNC gene symbol is CFAP410.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:29:30.022525Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:29:19.444042Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol is CFAP298.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:29:10.185645Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.542",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing; GMS R29",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:29:08.777023Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "0.932",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from Diabetes, permanent neonatal, with or without neurologic features, 606176 to Diabetes, permanent neonatal, with or without neurologic features, 606176; DEND syndrome",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:29:06.203685Z",
"panel_name": "Diabetes - neonatal onset",
"panel_id": 293,
"panel_version": "1.9",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes;Neonatal diabetes diagnosed <6 months to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; GMS R143",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:29:01.443555Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: FAM58A: Added new-gene-name tag, new approved HGNC gene symbol is CCNQ.",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:28:53.341684Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: FAM58A.",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:28:43.057707Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.542",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RHOBTB2",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:28:22.309182Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag polygenic tag was added to gene: TRAPPC12.",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:28:05.178196Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: TRAPPC12: polygenic tag added: In DD-G2P download, digenic MOI listed for Progressive Childhood Encephalopathy and Golgi Dysfunction.",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:27:02.684193Z",
"panel_name": "Hydrocephalus",
"panel_id": 179,
"panel_version": "1.24",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Hydrocephalus; GMS R86",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:26:54.758770Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: MTMR14: polygenic tag added: In DD-G2P download, digenic MOI listed for CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150.",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:26:43.081596Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag polygenic tag was added to gene: MTMR14.",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:26:21.235149Z",
"panel_name": "Craniosynostosis",
"panel_id": 168,
"panel_version": "1.42",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Craniosynostosis syndromes;Craniosynostosis syndromes phenotypes to Craniosynostosis syndromes; Craniosynostosis syndromes phenotypes; Rare syndromic craniosynostosis or isolated multisuture synostosis; GMS R100",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:26:02.175936Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: NEK1: monogenic-polygenic tag added: In DD-G2P download, both biallelic and digenic MOIs listed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520.",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:25:50.231693Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag monogenic-polygenic tag was added to gene: NEK1.",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:25:14.474513Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: GNAQ: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital Hemangioma.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:25:07.714994Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:24:45.197527Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:24:42.101234Z",
"panel_name": "Hereditary spastic paraplegia - childhood onset",
"panel_id": 568,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to Childhood onset hereditary spastic paraplegia; GMS R61",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:24:21.013509Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: PIK3CA: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:24:01.569667Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "1.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FUT8 as Green List (high evidence)",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:24:01.566894Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "1.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:24:01.530319Z",
"panel_name": "Congenital disorders of glycosylation",
"panel_id": 25,
"panel_version": "1.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:23:56.955369Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: SMO.",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:23:44.592068Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: SMO: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Curry-Jones Syndrome.",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:23:35.044445Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "1.39",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; GMS R88",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:23:31.638483Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: GNA14: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital vascular tumours.",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:23:25.270082Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: GNA14.",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:22:59.822081Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: GNA11.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:22:51.118382Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: GNA11: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital Hemangioma.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:22:39.469083Z",
"panel_name": "Holoprosencephaly",
"panel_id": 78,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from Rhombencephalosynapsis to Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; GMS R85",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-19T13:22:22.968626Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: GNAS.",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:22:14.561282Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: GNAS: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080.",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:21:56.892668Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:21:49.228120Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: FLNA: Mosaicism tag added: In DD-G2P download, hemizygous,mosaic MOI listed for Childhood Interstitial Lung Disease.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:55.886370Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:45.573436Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: PTEN: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for PROTEUS SYNDROME 176920.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:28.608627Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.541",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FUT8 as Green List (high evidence)",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:28.605977Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.541",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:28.590122Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "2.541",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:28.512368Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: FGFR1.",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:20:19.043385Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: FGFR1: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Encephalocraniocutaneous lipomatosis.",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:19:11.456897Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: AKT3: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for HEMIMEGALENCEPHALY AKT3 603387.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:19:02.466281Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: AKT3.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:18:38.890037Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: AKT1: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for PROTEUS SYNDROME 176920.",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T13:18:27.598596Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: AKT1.",
"entity_name": "AKT1",
"entity_type": "gene"
}
]
}