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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1776",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1774",
"results": [
{
"created": "2020-06-04T06:44:56.825689+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL13B were set to ",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:44:27.328801+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:43:54.611189+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:42:37.546889+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:42:37.537367+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:42:34.483169+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CENPF as Amber List (moderate evidence)",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:42:34.474334+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:41:46.500115+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL13B as ready",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:41:46.487619+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl13b has been classified as Green List (High Evidence).",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:41:43.881096+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:41:15.889367+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL13B were set to ",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:40:44.316918+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-04T06:40:12.895930+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:24:48.335095+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.34",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: RAB23 as ready",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:24:48.323098+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.34",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Green List (High Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:23:57.088161+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.34",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: RAB23 as Green List (high evidence)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:23:57.077406+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.34",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Green List (High Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:23:25.617177+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.33",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB23 were set to 17503333\nPhenotypes for gene: RAB23 were set to 201000 CARPENTER SYNDROME\nPenetrance for gene: RAB23 were set to Complete\nReview for gene: RAB23 was set to GREEN\nAdded comment: Craniosynostosis is an established feature of Carpenter syndrome \nSources: Literature",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:18:20.538212+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.32",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: HNRNPK as ready",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:18:20.529487+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.32",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:18:06.475335+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.32",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: HNRNPK as Green List (high evidence)",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:18:06.469453+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.32",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Amazing reviewer",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:18:06.440705+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.32",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:17:13.931638+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.31",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPK were set to 26173930; 26954065; 29904177\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome\nPenetrance for gene: HNRNPK were set to Complete\nReview for gene: HNRNPK was set to GREEN\nAdded comment: Multiple unrelated individuals with Au-Kline (approx 1/3 have craniosynostosis - sagittal, metric, lambdoid) \nSources: Literature",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:12:44.967808+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.30",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:12:44.942309+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.30",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:12:40.144675+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.30",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ESCO2 as Amber List (moderate evidence)",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:12:40.133278+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.30",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:11:53.912416+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.29",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESCO2 were set to 31192177\nPhenotypes for gene: ESCO2 were set to 268300 ROBERTS SYNDROME\nPenetrance for gene: ESCO2 were set to Complete\nReview for gene: ESCO2 was set to AMBER\nAdded comment: Two unrelated individuals with Roberts syndrome and craniosynostosis \nSources: Literature",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:07:05.689112+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.28",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: EFNA4 as ready",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:07:05.680286+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.28",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:03:50.368071+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.28",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: EFNA4 as Amber List (moderate evidence)",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:03:50.357030+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.28",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2020-06-03T22:03:10.528297+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.27",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29168297, 29215649; Phenotypes: Coronal and metopic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:45:28.488070+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.27",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: DPH1 as ready",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:45:28.478397+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.27",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: dph1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:45:23.170366+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.27",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: DPH1 as Amber List (moderate evidence)",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:45:23.166001+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.27",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: I agree!",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:45:23.144400+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.27",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: dph1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:44:36.749977+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.26",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: DPH1 was added\ngene: DPH1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPH1 were set to 25558065; 26220823\nPhenotypes for gene: DPH1 were set to 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR\nPenetrance for gene: DPH1 were set to Complete\nReview for gene: DPH1 was set to AMBER\nAdded comment: Multiple sibs from two unrelated families with DEDSSH syndrome, of which craniosynostosis was a component in some affected individuals. \nSources: Literature",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:38:01.377690+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.25",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: CYP26B1 as ready",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:38:01.368894+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.25",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: cyp26b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:32:19.817106+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.25",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: CYP26B1 as Green List (high evidence)",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:32:19.804299+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.25",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: cyp26b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:31:33.681351+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: CYP26B1 was added\ngene: CYP26B1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP26B1 were set to 27410456; 22019272\nPhenotypes for gene: CYP26B1 were set to 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES\nPenetrance for gene: CYP26B1 were set to Complete\nReview for gene: CYP26B1 was set to GREEN\nAdded comment: Three unrelated families in two publications, the first of which also demonstrated robust functional work in murine embryos, zebrafish and in vitro assays suggesting aberrant osteoblast-osteocyte transition. \nSources: Literature",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:22:34.856452+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.23",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: COLEC11 as ready",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:22:34.844423+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.23",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: colec11 has been classified as Green List (High Evidence).",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:22:22.235720+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.23",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: COLEC11 as Green List (high evidence)",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:22:22.227035+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.23",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: colec11 has been classified as Green List (High Evidence).",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:21:14.403038+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.22",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: COLEC11 was added\ngene: COLEC11 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLEC11 were set to 21258343\nPhenotypes for gene: COLEC11 were set to 265050 3MC SYNDROME 2\nPenetrance for gene: COLEC11 were set to Complete\nReview for gene: COLEC11 was set to GREEN\nAdded comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome \nSources: Literature",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:14:44.723182+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.21",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "edited their review of gene: CHST3: Changed rating: RED",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:14:14.520015+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.21",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: CHST3 as Red List (low evidence)",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:14:14.508287+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.21",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: chst3 has been classified as Red List (Low Evidence).",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:14:11.143273+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.20",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: CHST3 as ready",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:14:11.134265+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.20",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: chst3 has been classified as Red List (Low Evidence).",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:13:26.084071+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.20",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: CHST3 was added\ngene: CHST3 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST3 were set to 24300290\nPhenotypes for gene: CHST3 were set to 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS\nPenetrance for gene: CHST3 were set to Complete\nReview for gene: CHST3 was set to AMBER\nAdded comment: Single case report of craniosynostosis in single individual with SEDCJD \nSources: Literature",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2020-06-03T21:12:12.707748+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.17",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: TECRL was added\ngene: TECRL was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: Literature\nMode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECRL were set to 17666061; 27861123; 30790670\nPhenotypes for gene: TECRL were set to CPVT\nPenetrance for gene: TECRL were set to Complete\nReview for gene: TECRL was set to GREEN\nAdded comment: As at 03/06/2020, not assessed by ClinGen for association with CPVT; and is associated with CPVT3 in OMIM. Amber on GEL PanelApp\r\nHomozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence. \r\n-\t17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)\r\n-\t27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)\r\n-\t30790670 reported in a single family with one child with features of CPVT\r\nThis gene meets criteria for green. \nSources: Literature",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:58:35.245809+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.19",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: B3GAT3 as Green List (high evidence)",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:58:35.236926+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.19",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Green List (High Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:58:06.966887+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: B3GAT3 as ready",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:58:06.958018+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Red List (Low Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:57:20.748058+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GAT3 were set to 31438591\nPhenotypes for gene: B3GAT3 were set to 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS\nPenetrance for gene: B3GAT3 were set to Complete\nReview for gene: B3GAT3 was set to GREEN\nAdded comment: Craniosynostosis is a feature of B3GAT3-related joint dislocations. Reported in multiple unrelated individuals and summarised in PMID 31438591 (2019) \nSources: Literature",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:49:36.819907+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALPL as Green List (high evidence)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:49:36.813476+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:49:36.780812+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:49:15.840053+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALPL as Red List (low evidence)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:49:15.825120+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:49:15.803636+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alpl has been classified as Red List (Low Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:48:30.792337+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALPL as Green List (high evidence)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:48:30.786567+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Known manifestation of hypophosphatasia; can precede other features",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:48:30.765665+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:48:23.111941+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.15",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ALPL as ready",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:48:23.099707+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.15",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alpl has been classified as Red List (Low Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:47:04.023478+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.15",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALPL were set to 29405940; 26590809; 30979546; 31754721\nPhenotypes for gene: ALPL were set to 241500 HYPOPHOSPHATASIA, INFANTILE\nPenetrance for gene: ALPL were set to unknown\nReview for gene: ALPL was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-06-03T20:27:00.873126+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.17",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30649896, 25922419, 22422768; Phenotypes: triadin knockout syndrome, LQTS, CPVT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:10:25.719748+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC4H2 as ready",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:10:25.706563+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc4h2 has been classified as Green List (High Evidence).",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:10:22.976160+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome (MIM#314580)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:09:54.586426+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZC4H2 were set to ",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:09:09.555637+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZC4H2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:08:09.277800+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASQ2 as ready",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:08:09.264785+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Green List (High Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:08:06.382265+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASQ2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM#\t611938",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:07:20.748942+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASQ2 were set to ",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:05:18.065155+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:02:11.575152+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:02:11.559060+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T18:02:08.178716+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from to Andersen Tawil syndrome, LQTS",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:58:04.380107+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:57:06.955775+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:56:38.691858+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ2 as Amber List (moderate evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:56:38.678750+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:55:17.795372+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:55:17.781977+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:55:15.203378+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:54:51.971821+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS33B were set to ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:54:22.287738+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:53:52.261429+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:52:39.009072+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-06-03T17:52:39.000277+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
}
]
}