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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1735",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1733",
"results": [
{
"created": "2020-07-12T19:54:46.402100+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:54:24.943547+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:48:40.073560+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:48:40.063332+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Red List (Low Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:48:37.615452+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:48:16.655252+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:47:55.335395+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:47:34.981798+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Red List (low evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:47:34.970976+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Red List (Low Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-12T19:47:04.645234+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: 20301367; Phenotypes: Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:38:10.964578+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYMK as ready",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:38:10.953953+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:38:06.508032+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYMK as Green List (high evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:38:06.500737+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:37:43.312163+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYMK was added\ngene: MYMK was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMK were set to 28681861\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome\t254940\nReview for gene: MYMK was set to GREEN\nAdded comment: Distal contractures are part of the phenotype of this muscle disorder. \nSources: Expert list",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:34:58.636278+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL1 as ready",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:34:58.629307+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl1 has been classified as Red List (Low Evidence).",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:34:41.518653+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYL1 was added\ngene: MYL1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL1 were set to 30215711\nPhenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414\nReview for gene: MYL1 was set to RED\nAdded comment: Two families and a zebrafish model. Predominant finding is that of hypotonia, mild contractures reported in one. \nSources: Expert list",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:27:15.977448+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301719; Phenotypes: MED12-related disorders; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:23:58.033792+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:23:58.022996+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:23:49.174496+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAGEL2 as Green List (high evidence)",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:23:49.168459+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:23:21.761052+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAGEL2 were set to 24076603; 27195816; 26365340\nPhenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome\nReview for gene: MAGEL2 was set to GREEN\nAdded comment: Fountain et al. (2017) reported 18 patients with SHFYNG ascertained on the basis of genetic studies from several different research groups or laboratories. Joint contractures were present in almost all patients, and ranged from only the interphalangeal joints to lethal fetal akinesia with severe arthrogryposis.\r\nMejlachowicz et al (2015) reported two unrelated families with lethal AMC and heterozygous truncating frameshift MAGEL2 mutations on paternal allele. \nSources: Expert list",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:20:21.574054+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:20:21.562326+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Green List (High Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:20:16.809308+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMX1B as Green List (high evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:20:16.798592+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Green List (High Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:19:53.072472+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMX1B were set to Nail-patella syndrome, MIM#\t161200\nReview for gene: LMX1B was set to GREEN\nAdded comment: Elbow and knee contractures are common features. \nSources: Expert list",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:12:51.063747+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:12:51.056315+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Red List (Low Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:12:48.576637+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis 307000",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:12:27.282250+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:12:06.870801+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:11:46.587643+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: L1CAM as Red List (low evidence)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:11:46.577818+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Red List (Low Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:09:54.167658+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: 31504653; Phenotypes: Hydrocephalus due to aqueductal stenosis 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:03:45.357821+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:03:45.348150+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Red List (Low Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:03:42.362161+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:03:21.717544+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPC3 were set to ",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:02:59.960981+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:02:39.655610+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPC3 as Red List (low evidence)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:02:39.648917+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Red List (Low Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T18:02:17.991670+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: 20301398; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:56:26.584212+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:56:26.573973+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:56:23.495675+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from to FLNA-related disorders; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:55:59.636888+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:55:35.316662+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:55:21.331555+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:54:57.881457+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26804200, 30561107, 20301567; Phenotypes: FLNA-related disorders, Otopalatodigital syndrome, type I 311300, Otopalatodigital syndrome, type II 304120, Terminal osseous dysplasia 300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:33:19.100232+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FHL1 as ready",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:33:19.090572+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhl1 has been classified as Red List (Low Evidence).",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:33:16.766072+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FHL1 were changed from to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696; Myopathy, X-linked, with postural muscle atrophy, MIM# 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718; Scapuloperoneal myopathy, X-linked dominant, MIM# 300695",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:32:54.772192+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:32:22.437870+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FHL1 as Red List (low evidence)",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:32:22.430855+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhl1 has been classified as Red List (Low Evidence).",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:31:59.293566+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696, Myopathy, X-linked, with postural muscle atrophy, MIM# 300696, Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717, Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718, Scapuloperoneal myopathy, X-linked dominant, MIM# 300695; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:26:25.893008+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD1 as ready",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:26:25.883632+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Red List (Low Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:26:22.970314+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD1 were changed from to Aarskog-Scott syndrome, MIM# 305400; Mental retardation, X-linked syndromic 16, MIM# 305400",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:25:56.378080+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD1 were set to ",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:25:35.723337+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:25:16.060216+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGD1 as Red List (low evidence)",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:25:16.050860+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Red List (Low Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T17:24:54.061611+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGD1: Rating: RED; Mode of pathogenicity: None; Publications: 27551683; Phenotypes: Aarskog-Scott syndrome, MIM# 305400, Mental retardation, X-linked syndromic 16 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:38:08.603102+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC5 as Green List (high evidence)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:38:08.593923+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:37:38.746074+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC5: Changed publications: 24700531, 32557569",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:37:34.070895+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis. \nSources: Expert list; to: A family reported with 5 affected fetuses and severe COFS including arthrogryposis in PMID:24700531. Further two included in a recent review of severe neonatal presentations of nucleotide excision-repair disorders (PMID:32557569).\r\nSources: Expert list",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:37:24.831612+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC5: Changed rating: GREEN",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:24:38.760489+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:24:38.750534+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:24:33.378733+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC5 as Amber List (moderate evidence)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:24:33.369437+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:24:07.797816+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC5 were set to 24700531\nPhenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, MIM# 616570\nReview for gene: ERCC5 was set to AMBER\nAdded comment: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis. \nSources: Expert list",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:02:50.964810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:02:50.952470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:02:45.240808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from to Lethal congenital contractural syndrome 2, MIM# 607598",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:02:22.951952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERBB3 were set to ",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:02:07.299604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:01:52.626791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB3 as Amber List (moderate evidence)",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:01:52.618709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T16:01:36.435762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:57:47.529433+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:57:47.518583+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:57:41.795861+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from to Lethal congenital contractural syndrome 2, MIM# 607598",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:57:19.395535+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERBB3 were set to ",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:56:58.392005+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:56:37.741410+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB3 as Amber List (moderate evidence)",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:56:37.732370+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:56:14.465331+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:49:48.451253+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:49:48.439987+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:49:46.355608+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:49:25.593167+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:48:59.870413+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:48:40.426231+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2S3 as Red List (low evidence)",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-07-11T15:48:40.417803+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
}
]
}