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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1328",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1326",
"results": [
{
"created": "2021-05-07T12:55:52.099063+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:55:18.610321+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNFX1 was added\ngene: ZNFX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNFX1 were set to 33872655\nPhenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections\nReview for gene: ZNFX1 was set to GREEN\nAdded comment: 15 individuals from 8 families reported. \nSources: Literature",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:51.290842+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: UPB1 as ready",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:51.281130+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: upb1 has been classified as Red List (Low Evidence).",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:47.427373+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, 613161 (3) to Beta-ureidopropionase deficiency, MIM #613161",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:35.564114+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: UPB1 were set to ",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:24.247045+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.100",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: UPB1 as Red List (low evidence)",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:24.234887+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.100",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: upb1 has been classified as Red List (Low Evidence).",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:17.758007+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP3 as ready",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:17.749427+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:13.210871+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP3 as Green List (high evidence)",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:52:13.202279+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:48.218644+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.99",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: POLA1 as ready",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:48.208490+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.99",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:44.406970+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP3 was added\ngene: STXBP3 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STXBP3 were set to 33891011\nPhenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation\nReview for gene: STXBP3 was set to GREEN\nAdded comment: 10 individuals from 5 families reported. \nSources: Literature",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:32.864529+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.99",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: POLA1 were changed from Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:10.383532+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.98",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: POLA1 as Amber List (moderate evidence)",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:10.369766+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.98",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:10.080106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP3 as ready",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:51:10.068613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:50.932346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP3 as Green List (high evidence)",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:50.923402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:44.985361+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TBX22 as ready",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:44.975379+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Red List (Low Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:38.062520+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TBX22 as Red List (low evidence)",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:38.050374+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.97",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Red List (Low Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:16.199017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP3 was added\ngene: STXBP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STXBP3 were set to 33891011\nPhenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation\nReview for gene: STXBP3 was set to GREEN\nAdded comment: 10 individuals from 5 families reported. \nSources: Literature",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:15.380111+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.96",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MBTPS1 as ready",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:15.343660+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.96",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:04.017463+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.96",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MBTPS1 as Amber List (moderate evidence)",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:04.011569+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.96",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not quite enough for MM",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:03.966159+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.96",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:01.428031+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP3 as ready",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:50:01.417687+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:49:37.512072+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP3 as Green List (high evidence)",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:49:37.503167+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:49:16.959846+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.95",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:49:16.921197+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.95",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:49:12.768957+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.95",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from Otospondylomegaepiphyseal dysplasia, 215150 (3) to Spondyloperipheral dysplasia, MIM #271700",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:48:56.200034+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.94",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: COL2A1 were set to ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:48:46.153507+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP3 was added\ngene: STXBP3 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STXBP3 were set to 33891011\nPhenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation\nReview for gene: STXBP3 was set to GREEN\nAdded comment: 10 individuals from 5 families reported. \nSources: Literature",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:48:43.497213+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.93",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:48:23.664518+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.92",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: COL2A1 as Amber List (moderate evidence)",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:48:23.653759+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.92",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:52.396889+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP3 as Green List (high evidence)",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:52.387761+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:37.492183+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.91",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: NYX as ready",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:37.475883+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.91",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nyx has been classified as Green List (High Evidence).",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:32.173219+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP3 as Green List (high evidence)",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:32.160910+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Green List (High Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:30.893955+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP3 as ready",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:30.881212+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp3 has been classified as Red List (Low Evidence).",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:47:29.836551+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.91",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:46:52.058406+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CLCN4 as ready",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:46:52.040543+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:46:47.762976+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive to Raynaud-Claes syndrome, MIM #300114",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:46:46.764088+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP3 was added\ngene: STXBP3 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STXBP3 were set to 33891011\nPhenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation\nReview for gene: STXBP3 was set to GREEN\nAdded comment: 10 individuals from 5 families reported. \nSources: Literature",
"entity_name": "STXBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:46:30.723191+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.89",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CLCN4 were set to ",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:46:17.247830+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.88",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN4 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": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:45:04.410754+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.87",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: NEXMIF as ready",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:45:04.395542+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.87",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nexmif has been classified as Green List (High Evidence).",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:44:57.929448+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.87",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, 300912 (3) to Mental retardation, X-linked 98, MIM #300912",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:44:42.703946+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.86",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEXMIF 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": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:44:17.913229+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.85",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: NHS as ready",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:44:17.902578+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.85",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nhs has been classified as Green List (High Evidence).",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:44:13.353195+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.85",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHS 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": "NHS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:46.543713+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.84",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: COL4A5 as ready",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:46.533663+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.84",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: col4a5 has been classified as Green List (High Evidence).",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:40.143300+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.84",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A5 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": "COL4A5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:29.928602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL21R as ready",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:29.919878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il21r has been classified as Green List (High Evidence).",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:24.162729+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL21R as ready",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:24.143631+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il21r has been classified as Green List (High Evidence).",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:20.320581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:18.999726+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL21R were changed from Immunodeficiency 56, MIM# 615207 to Immunodeficiency 56, MIM# 615207",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:43:02.973554+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:57.644722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL21R were set to ",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:34.459863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:20.721503+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.83",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: NTNG2 as ready",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:20.712560+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.83",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:19.687457+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL21R were set to ",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:16.895485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:13.161402+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.83",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: NTNG2 as Amber List (moderate evidence)",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:13.137112+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.83",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Amber for MM due to rarity",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:42:13.093889+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.83",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:41:35.601048+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:41:28.054268+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.82",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EDA as ready",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:41:28.043443+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.82",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: eda has been classified as Green List (High Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:41:20.898964+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.82",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:41:07.755283+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:40:26.759352+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.81",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:40:26.754737+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.81",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Amber due to rarity",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:40:26.732188+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.81",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mogs has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:40:00.234072+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.81",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:39:49.644676+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.81",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MOGS as Amber List (moderate evidence)",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:39:49.633456+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.81",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mogs has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:39:31.666991+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:39:31.662044+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Remains red due to rarity",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:39:31.620883+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mogs has been classified as Red List (Low Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:38:59.285007+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.80",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DYNC1I2 as ready",
"entity_name": "DYNC1I2",
"entity_type": "gene"
}
]
}