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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1926",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1924",
"results": [
{
"created": "2020-02-17T13:18:11.523809+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INTS1 were set to ",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:17:48.710156+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:17:20.411034+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:14:11.323449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS1 as ready",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:14:11.314360+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:14:02.338190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:13:26.382518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INTS1 were set to ",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:13:00.432094+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:12:12.013816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGT1A4 as ready",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:12:12.009495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, no evidence currently for Mendelian gene-disease association.",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:12:11.979113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugt1a4 has been classified as Red List (Low Evidence).",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:11:42.826051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGT1A4 as Red List (low evidence)",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:11:42.812822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugt1a4 has been classified as Red List (Low Evidence).",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-02-17T12:41:48.667984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1373",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:45:00.091711+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX41 as ready",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:45:00.078469+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:44:12.214200+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX41 as Green List (high evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:44:12.200461+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:41:39.329647+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX41 was added\ngene: DDX41 was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM#\t616871\nReview for gene: DDX41 was set to GREEN\nAdded comment: Adult-onset disorder, often initially presents with myelodysplasia +/- a range of haematological malignancies. Reduced penetrance. \nSources: Expert list",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:35:33.259677+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX41 as ready",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:35:33.246131+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:34:39.897738+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX41 as Green List (high evidence)",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:34:39.888555+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx41 has been classified as Green List (High Evidence).",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:33:13.670892+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX41 was added\ngene: DDX41 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM#\t616871\nReview for gene: DDX41 was set to GREEN\nAdded comment: Adult-onset disorder, often initially presents with myelodysplasia +/- a range of haematological malignancies. Reduced penetrance. \nSources: Expert list",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-02-17T11:07:58.630720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2191",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T10:12:48.433951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1373",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UGT1A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-02-16T18:06:00.056229+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3E as Amber List (moderate evidence)",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-02-16T18:06:00.043217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3e has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:13:08.294135+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:13:08.284824+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sacs has been classified as Amber List (Moderate Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:12:56.843039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:12:30.968433+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SACS were set to ",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:11:57.228944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SACS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:11:27.266699+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SACS as Amber List (moderate evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:11:27.253856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sacs has been classified as Amber List (Moderate Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-16T17:10:48.844592+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: None; Publications: 28843771, 20876471, 28658676, 27871429; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:33:24.903924+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX3 as ready",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:33:24.895422+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:33:18.591133+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX3 as Amber List (moderate evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:33:18.578211+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:32:49.218808+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX3 was added\ngene: SOX3 was added to Disorders of Sex Differentiation. Sources: Expert Review\nSV/CNV tags were added to gene: SOX3.\nMode of inheritance for gene: SOX3 was set to Other\nPublications for gene: SOX3 were set to 21183788; 22678921; 25781358; 31523625\nPhenotypes for gene: SOX3 were set to XX male sex reversal\nMode of pathogenicity for gene: SOX3 was set to Other\nReview for gene: SOX3 was set to AMBER\nAdded comment: Multiple individuals reported; animal model: association is with structural variants, primarily duplications. \nSources: Expert Review",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:28:17.028606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000; XX male sex reversal",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:27:41.611254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX3: Changed phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000, XX male sex reversal",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:18:06.273798+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX3.",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:17:28.116604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX3 as ready",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:17:28.107981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:17:11.243459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:16:47.256196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX3 were set to ",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:16:24.838815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:16:04.808140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX3 as Amber List (moderate evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:16:04.794778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:15:44.344012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX3.",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:15:28.765070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:14:28.631523+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX3 as ready",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:14:28.622370+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Red List (Low Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:14:22.073050+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:13:59.039342+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX3 were set to ",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:13:25.359708+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:12:57.986841+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX3 as Red List (low evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:12:57.975852+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Red List (Low Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:12:28.807469+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:10:27.597993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX3.",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:08:46.757945+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX3 as ready",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:08:46.744421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:08:35.956421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:07:58.672048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX3 were set to ",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:07:23.358612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOX3 was changed from to Other",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:06:50.951285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:06:24.554603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX3 as Amber List (moderate evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:06:24.541200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:05:44.421002+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX3: Changed rating: AMBER",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-15T08:03:15.050619+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM# 300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:14:13.732270+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT1 as ready",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:14:13.718688+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:14:06.707428+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT1 were changed from Cowden syndrome 6, MIM#615109 to Cowden syndrome 6, MIM#615109",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:13:46.320524+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT1 were changed from to Cowden syndrome 6, MIM#615109",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:13:26.281338+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT1 were set to 23246288",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:13:06.932689+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT1 were set to ",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:12:47.833225+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:12:28.660318+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:12:01.200056+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT1 as Amber List (moderate evidence)",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:12:01.190655+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:11:33.408312+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288; Phenotypes: Cowden syndrome 6, MIM#615109; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:09:48.460875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT1 as ready",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:09:48.450664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:09:33.537619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:09:14.166165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT1 were changed from to Cowden syndrome 6, MIM#615109; Proteus syndrome, MIM#176920",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:08:11.572030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: AKT1.",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:07:34.010710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT1 were set to ",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:07:16.917433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:06:00.894818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT1 as Amber List (moderate evidence)",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:06:00.885992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:05:06.375572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:05:06.362290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:04:49.198936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from to Heimler syndrome 2, MIM#\t616617; Peroxisome biogenesis disorder 4A (Zellweger), MIM#\t614862; Peroxisome biogenesis disorder 4B, MIM#\t614863",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:03:47.002469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:01:55.847329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUF60 as ready",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:01:55.833081+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: puf60 has been classified as Green List (High Evidence).",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:01:50.369743+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM# 615583",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:01:16.384418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUF60 were set to ",
"entity_name": "PUF60",
"entity_type": "gene"
}
]
}