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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1921",
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"results": [
{
"created": "2020-02-27T15:50:35.600611+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOBP as Red List (low evidence)",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:50:35.591875+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sobp has been classified as Red List (Low Evidence).",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:50:04.479495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:51:58.814073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNORD118 as Amber List (moderate evidence)",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:51:58.800697+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snord118 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:51:26.126294+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:43:18.216984+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNIP1 as ready",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:43:18.207919+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snip1 has been classified as Red List (Low Evidence).",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:43:16.788705+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:42:57.760465+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:42:32.293384+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to ",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:42:08.490047+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:41:40.222854+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNIP1 as Red List (low evidence)",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:41:40.214420+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snip1 has been classified as Red List (Low Evidence).",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:41:10.702521+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:40:22.628752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNIP1 as ready",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:40:22.613869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snip1 has been classified as Red List (Low Evidence).",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:40:09.654779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:39:55.948668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to ",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:39:40.855456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:39:20.728290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNIP1 as Red List (low evidence)",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:39:20.714972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snip1 has been classified as Red List (Low Evidence).",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:38:23.580236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:38:06.714325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNIP1 as ready",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:38:06.705565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snip1 has been classified as Red List (Low Evidence).",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:35:39.126053+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:35:10.223351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:34:48.869645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to 22279524",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:34:27.902842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNIP1 were set to ",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:34:08.472572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:33:43.067487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNIP1 as Red List (low evidence)",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:33:43.054740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snip1 has been classified as Red List (Low Evidence).",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:33:11.081901+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNIP1",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:23:18.751810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMG9 as ready",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:23:18.738989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg9 has been classified as Green List (High Evidence).",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:23:09.336076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMG9 were changed from to Heart and brain malformation syndrome, MIM# 616920",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:22:47.855931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMG9 were set to ",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:22:27.392068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:22:07.576494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:20:43.384942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMG9 as ready",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:20:43.371287+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg9 has been classified as Green List (High Evidence).",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:20:36.761407+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMG9 as Green List (high evidence)",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:20:36.747352+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg9 has been classified as Green List (High Evidence).",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:20:03.064870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMG9 was added\ngene: SMG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG9 were set to 27018474; 31390136\nPhenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, MIM#\t616920\nReview for gene: SMG9 was set to GREEN\nAdded comment: Three unrelated families reported, severe congenital malformation syndrome, ID is part of the phenotype in survivors. \nSources: Expert list",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:04:44.545641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCD2 as ready",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:04:44.531573+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:04:38.289795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCD2 as Amber List (moderate evidence)",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:04:38.276210+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-02-27T14:04:05.135946+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCD2 was added\ngene: SMARCD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCD2 were set to 26350204; 28369036\nPhenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)\nReview for gene: SMARCD2 was set to AMBER\nAdded comment: Candidate ID gene in PMID:26350204 and developmental delay seen in 2 patients with SGD2 PMID:28369036. \nSources: Expert list",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:36:43.693528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS3 as ready",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:36:43.685225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss3 has been classified as Green List (High Evidence).",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:36:25.458574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMPRSS3 were set to ",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:36:04.285218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:35:20.271520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:35:00.605119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21786053, 17551081; Phenotypes: Deafness, autosomal recessive 8/10, MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:32:41.130600+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS3 as ready",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:32:41.115892+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss3 has been classified as Green List (High Evidence).",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:18:23.973855+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:18:01.848644+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMPRSS3 were set to ",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:17:39.485775+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:16:59.882726+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJB2 as ready",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:16:59.868871+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb2 has been classified as Green List (High Evidence).",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:16:56.587522+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:16:32.190976+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJB2 were set to ",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:16:08.726324+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:14:52.669724+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU3F4 as ready",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:14:52.649106+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f4 has been classified as Green List (High Evidence).",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:14:27.975250+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU3F4 were changed from to Deafness, X-linked 2, MIM# 304400",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:13:58.719863+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POU3F4 were set to ",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:13:29.404815+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POU3F4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:12:59.292783+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU3F4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31786483, 30176854; Phenotypes: Deafness, X-linked 2, MIM# 304400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:10:52.192422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU3F4 as ready",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:10:52.183156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f4 has been classified as Green List (High Evidence).",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:10:40.673722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU3F4 were changed from to Deafness, X-linked 2, MIM#304400",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:09:53.087036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POU3F4 were set to ",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:09:32.031578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POU3F4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:08:27.146721+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.101",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (MIM#612714); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:08:26.544798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLIT2 as ready",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:08:26.531176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slit2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:08:18.294645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLIT2 were changed from to CAKUT",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:08:00.056719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLIT2 were set to ",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:07:40.320592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLIT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:07:22.008662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLIT2 as Amber List (moderate evidence)",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:07:21.999817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slit2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:07:03.187592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792, 15130495; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:05:09.816393+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLIT2 as ready",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:05:09.807847+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slit2 has been classified as Red List (Low Evidence).",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:05:05.322070+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLIT2 were set to ",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:04:35.574760+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLIT2 as Red List (low evidence)",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:04:35.565020+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slit2 has been classified as Red List (Low Evidence).",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:03:35.514856+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: None; Publications: 22349628; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:01:39.569929+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLT4 as ready",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:01:39.560759+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flt4 has been classified as Green List (High Evidence).",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:01:34.720237+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLT4 were changed from to Congenital heart defects, multiple types, 7, MIM#618780",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:00:48.079840+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLT4 were set to ",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2020-02-27T13:00:24.341924+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2020-02-27T12:57:16.819554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEL as ready",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2020-02-27T12:57:16.807326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cel has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2020-02-27T12:57:06.247180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEL were changed from to Maturity-onset diabetes of the young, type VIII",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2020-02-27T12:56:45.502271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEL were set to ",
"entity_name": "CEL",
"entity_type": "gene"
}
]
}