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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=904",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=902",
"results": [
{
"created": "2022-03-30T09:18:33.767839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADRB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15724149; Phenotypes: Beta-2-adrenoreceptor agonist, reduced response to, {Asthma, nocturnal, susceptibility to} MIM#600807, {Obesity, susceptibility to} MIM#601665; Mode of inheritance: Unknown",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:09:34.854973+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4640",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from Intellectual disability; Microcephaly; Short stature to Neurodevelopmental disorder, MONDO:0700092, WDR11-related",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:09:14.489855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4640",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: WDR11 were set to 34413497",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:08:35.227689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4639",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:07:57.666398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4638",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, WDR11-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:57:12.463749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A2 as ready",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:57:12.452758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:56:26.827572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A2 were changed from to Orthostatic intolerance, MIM# 604715",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:56:07.922995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A2 were set to ",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:55:48.985345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:54:24.897228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A2 as Red List (low evidence)",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:54:24.884008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:54:00.199117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A2: Rating: RED; Mode of pathogenicity: None; Publications: 10684912; Phenotypes: Orthostatic intolerance, MIM# 604715; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:51:09.177778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAD1 as ready",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:51:09.165818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcad1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:51:02.630282+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAD1 were changed from Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000 to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:51:00.295410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAD1 were changed from to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:50:41.367466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCAD1 were set to ",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:50:32.583313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCAD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:50:23.071780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:50:04.235465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29409814; Phenotypes: Huriez syndrome, OMIM #181600, Basan syndrome, MIM# 129200, Adermatoglyphia, MIM# 136000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:47:50.811283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCB1 as ready",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:47:50.799153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:46:49.704091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3, MIM# 614608",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:46:29.353068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCB1 were set to ",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:46:09.952395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:45:48.143331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34205270, 31530938, 25168959; Phenotypes: Coffin-Siris syndrome 3, MIM# 614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:42:27.939588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMN2 as ready",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:42:27.924225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:42:14.960938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMN2 were changed from to {Spinal muscular atrophy, type III, modifier of} 253400",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:41:54.444917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:41:35.723079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMN2 as Amber List (moderate evidence)",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:41:35.712039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:41:15.893080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Spinal muscular atrophy, type III, modifier of} 253400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMN2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:36:50.173300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTOG as ready",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:36:50.159316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otog has been classified as Green List (High Evidence).",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:36:42.487228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B - MIM#614945",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:35:49.171762+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:35:49.162183+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:35:44.731448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome (MIM212720); Warburg micro syndrome 2 (MIM#614225)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:35:09.421864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:33:32.828097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-29T17:12:11.454558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12261",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome type 4A MONDO:0010192; sensorineural hearing loss; pigmentary abnormalities; Hirschsprung disease",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-03-29T17:06:55.622921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EDNRB were set to ",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-03-29T16:57:33.510168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12259",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-03-29T16:54:38.723489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28502583, 25852447, 21373256, 16237557, 11773966, 11891690, 8001158, 10528251, 10528251, 19764031, 28236341; Phenotypes: Waardenburg syndrome type 4A (MONDO:0010192); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:35:04.984922+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:34:45.655764+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:30:59.373787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTOG were set to ",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:30:34.295064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:30:21.188095+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to 32245340; 22461475",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:29:53.378051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTC 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": "OTC",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:29:38.871559+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:29:30.383162+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:29:30.364255+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:29:03.033489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTC as ready",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:29:03.022619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otc has been classified as Green List (High Evidence).",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:28:44.860045+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:28:44.830217+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:28:01.307147+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:26:32.161948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency - MIM#311250",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:26:08.661065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:24:43.663883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSTM1 as ready",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:24:43.651123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostm1 has been classified as Green List (High Evidence).",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:24:40.120518+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:24:40.107978+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:24:36.014216+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSTM1 as ready",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:24:35.999255+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostm1 has been classified as Green List (High Evidence).",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:15:43.564060+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 MIM#259720",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:15:15.635848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 (MIM#259720)",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:15:08.805645+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSTM1 were set to ",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:14:47.708103+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:14:37.146222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSTM1 were set to ",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:13:45.176835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:13:09.006409+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-03-29T15:12:45.475552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSMR as ready",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:12:45.463886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osmr has been classified as Green List (High Evidence).",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:12:36.726063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSMR were changed from to Amyloidosis, primary localized cutaneous, 1 - MIM#105250",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:12:15.282367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSMR were set to ",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:11:53.523235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OSMR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:11:20.267869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSBPL2 as ready",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:11:20.255579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osbpl2 has been classified as Green List (High Evidence).",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:11:12.074239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67 - MIM#616340",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:10:50.640059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSBPL2 were set to ",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:10:28.908455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:09:52.988961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OR2J3 as ready",
"entity_name": "OR2J3",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:09:52.967655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: or2j3 has been classified as Red List (Low Evidence).",
"entity_name": "OR2J3",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:09:43.722766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OR2J3 as Red List (low evidence)",
"entity_name": "OR2J3",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:09:43.713401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: or2j3 has been classified as Red List (Low Evidence).",
"entity_name": "OR2J3",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:09:01.963122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPN1SW as ready",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:09:01.949364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1sw has been classified as Green List (High Evidence).",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:08:51.432860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1SW were changed from to Colourblindness, tritan - MIM#190900",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:08:22.673810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPN1SW were set to ",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:59.534473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPN1SW was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:26.069899+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPN1MW as ready",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:26.056753+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:23.361333+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1MW were changed from Blue cone monochromacy MIM#303700; Colorblindness, deutan MIM#303800 to Blue cone monochromacy MIM#303700; Colourblindness, deutan MIM#303800",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:16.335419+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPN1MW were set to 30679166",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:05.264273+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPN1MW as Amber List (moderate evidence)",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:07:05.251942+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
}
]
}