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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1610",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1608",
"results": [
{
"created": "2020-09-04T08:14:12.292527+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAK3 were changed from to Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:13:36.449938+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAK3 were set to ",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:13:04.333629+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:11:07.355979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK3 as ready",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:11:07.345013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Green List (High Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:10:58.723726+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 32050918, 32005903, 31943058, 31843706, 31678216; Phenotypes: Mental retardation, X-linked 30/47, MIM# 300558, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:10:22.303654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAK3 were changed from to Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:09:58.804075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAK3 were set to ",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:09:13.162200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-04T08:08:56.295248+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 32050918, 32005903, 31943058, 31843706, 31678216; Phenotypes: Mental retardation, X-linked 30/47, MIM# 300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-03T22:02:34.325573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4190",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32160286; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:48:20.954221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4190",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420594; Phenotypes: Congenital cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:03:58.448142+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLTC as ready",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:03:58.437018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Green List (High Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:03:54.413141+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56, MIM# 617854",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:03:35.116405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLTC were set to ",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:03:07.646712+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:02:39.277707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 26822784; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:02:00.543373+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLTC as ready",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:02:00.533978+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Green List (High Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:01:57.695017+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56, MIM# 617854",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:01:34.632217+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLTC were set to ",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:01:05.957479+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T21:00:37.146405+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 26822784; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:59:40.163259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLTC as ready",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:59:40.153841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Green List (High Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:59:31.385925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56, MIM# 617854",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:59:05.561623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLTC were set to ",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:58:45.618602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:58:27.579106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 26822784; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:56:18.428174+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLTC as ready",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:56:18.419768+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:56:13.671472+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56 (MIM#617854)",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:55:45.441233+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLTC were set to ",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:55:16.470284+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:54:59.547174+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLTC as Amber List (moderate evidence)",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:54:59.536898+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:52:51.968363+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-09-03T20:52:51.959733+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.436",
"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": "2020-09-03T20:35:33.263340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4187",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31943058; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-09-03T19:01:28.504024+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAG1 as ready",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T19:01:28.493424+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T19:01:19.585132+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:59:56.486737+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAG1 were set to ",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:59:27.198966+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:58:58.819997+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAG1 as Amber List (moderate evidence)",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:58:58.811396+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:58:36.122539+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28119487; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:54:30.740316+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC3 as ready",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:54:30.728700+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc3 has been classified as Green List (High Evidence).",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:54:24.868282+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC3 as Green List (high evidence)",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:54:24.859695+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc3 has been classified as Green List (High Evidence).",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:54:01.064343+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC3 was added\ngene: SMC3 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM#\t610759\nReview for gene: SMC3 was set to GREEN\nAdded comment: Well established gene-disease association, microcephaly is part of the phenotype. \nSources: Expert list",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:52:19.981651+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:52:19.971683+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:52:17.468321+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC1A as Green List (high evidence)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:52:17.457965+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:51:50.382152+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: SMC1A was set to Other\nPhenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM#\t300590\nReview for gene: SMC1A was set to GREEN\nAdded comment: XLD. Well established gene-disease association. Microcephaly is part of the phenotype. \nSources: Expert list",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:49:23.622510+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLX4 as ready",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:49:23.609608+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Green List (High Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:49:18.445803+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLX4 as Green List (high evidence)",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:49:18.434965+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Green List (High Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:48:37.652658+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLX4 was added\ngene: SLX4 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM#613951\nReview for gene: SLX4 was set to GREEN\nAdded comment: Established gene-disease association, microcephaly is part of the phenotype. \nSources: Expert list",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:46:31.645454+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:46:31.631296+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:46:23.413330+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:45:49.811790+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:45:21.934250+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:09:59.168555+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A4 as ready",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:09:59.154141+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:09:04.081372+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A4 were changed from to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:09:02.643442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:08:47.649214+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A4 were set to ",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:08:19.913800+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SLC1A4.",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:08:04.555196+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:07:39.265811+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-03T18:00:46.615534+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUSC2",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:56:30.496713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL10 as ready",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:56:30.485165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl10 has been classified as Green List (High Evidence).",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:56:24.157753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL10 were changed from to Mental retardation, X-linked, syndromic, 35, MIM# 300998",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:56:06.452915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL10 were set to ",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:55:47.413298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:55:30.687637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468; Phenotypes: Mental retardation, X-linked, syndromic, 35, MIM# 300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:55:18.812763+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL10 as ready",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:55:18.801004+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl10 has been classified as Green List (High Evidence).",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:54:36.025058+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL10 as Green List (high evidence)",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:54:36.013829+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl10 has been classified as Green List (High Evidence).",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:54:13.694708+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL10 was added\ngene: RPL10 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RPL10 were set to 25316788; 25846674; 26290468\nPhenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35, MIM#\t300998\nReview for gene: RPL10 was set to GREEN\nAdded comment: At least three families reported. Progressive microcephaly, up to -9.6 SD described. \nSources: Expert list",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:50:16.214664+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:50:16.206052+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:49:40.074560+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU4ATAC as Green List (high evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:49:40.062383+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:49:13.525029+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to 21474760; 20301772\nPhenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710\nReview for gene: RNU4ATAC was set to GREEN\nAdded comment: Established gene-disease association \nSources: Expert list",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:19:32.433204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:19:32.422526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:19:25.749715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# MIM#218330",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:19:08.468528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to ",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:18:50.629966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-09-03T17:18:33.060231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 26792575, 28370949, 29037998; Phenotypes: Cranioectodermal dysplasia 1, MIM# MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-09-03T16:37:57.298344+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses to Susceptibility to mycobacteria and viruses; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999",
"entity_name": "JAK1",
"entity_type": "gene"
}
]
}