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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1986",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1984",
"results": [
{
"created": "2020-01-14T21:20:55.781817+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED17 were set to ",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:20:19.454221+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:18:41.731498+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: METTL5 as ready",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:18:41.720128+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mettl5 has been classified as Green List (High Evidence).",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:18:04.667170+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDZ as ready",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:18:04.654293+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Green List (High Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:17:31.023128+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA2 as ready",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:17:31.011729+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:17:24.110275+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:17:24.098806+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:17:01.881896+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:16:11.930547+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTO1 as ready",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:16:11.918696+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mto1 has been classified as Green List (High Evidence).",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:16:09.582002+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA2 were set to 18513682; 28857146",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:15:48.440590+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA2 were set to ",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:15:27.912709+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF1 as ready",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:15:27.900378+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:15:15.669796+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:14:53.515856+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:14:17.338924+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF1 were set to ",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:13:41.306726+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:11:47.384033+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGG as ready",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:11:47.372125+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigg has been classified as Green List (High Evidence).",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:11:40.537063+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Mental retardation, autosomal recessive 53, MIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:10:57.312164+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:10:27.256350+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGG were set to 26996948",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:09:48.915730+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:08:02.957521+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGG were set to ",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:07:37.134480+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:00:49.183432+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2CA as ready",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:00:49.172116+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2ca has been classified as Green List (High Evidence).",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:00:11.271333+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAR1A as ready",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2020-01-14T21:00:11.246670+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:59:29.694111+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN4IP1 as ready",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:59:29.682668+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Green List (High Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:58:53.382324+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAPER as ready",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:58:53.371018+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:58:20.314523+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN9A as ready",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:58:20.303308+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Red List (Low Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:58:01.352684+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN9A were changed from to Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:57:19.298721+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:56:44.551067+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN9A as Red List (low evidence)",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:56:44.539699+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Red List (Low Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:55:35.185592+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3E as ready",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:55:35.173424+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3e has been classified as Green List (High Evidence).",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:55:24.801593+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, MIM#214800 to CHARGE syndrome, MIM#214800",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:55:04.330335+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:54:41.507521+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:54:20.127763+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA3E were set to ",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:53:53.892743+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:52:37.818151+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD4 as ready",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:52:37.806511+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Green List (High Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:52:31.444721+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:52:07.717855+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:51:37.302908+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD4 were set to ",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:50:42.879166+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:49:37.393671+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP25 as ready",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:49:37.382704+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap25 has been classified as Green List (High Evidence).",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:48:32.454406+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX4 as ready",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:48:32.436066+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox4 has been classified as Green List (High Evidence).",
"entity_name": "SOX4",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:48:00.703544+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPART as ready",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:48:00.691706+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spart has been classified as Green List (High Evidence).",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:47:29.060008+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG7 as ready",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:47:29.048702+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Green List (High Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:46:51.904655+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:46:51.892816+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:46:12.236441+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:46:12.225245+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:45:37.260549+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:45:37.248513+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Green List (High Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:45:02.879974+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUZ12 as ready",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:45:02.867689+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suz12 has been classified as Green List (High Evidence).",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:44:23.755617+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SVBP as ready",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:44:23.744212+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svbp has been classified as Green List (High Evidence).",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:43:45.685044+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYT1 as ready",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:43:45.673653+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syt1 has been classified as Green List (High Evidence).",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:42:50.502401+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D20 as ready",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:42:50.491297+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d20 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:42:15.102201+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:42:09.044315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCD as ready",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:42:09.028821+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Green List (High Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:41:47.557755+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:41:17.993915+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCD were set to ",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:40:49.572378+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:39:51.834783+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDP2 as ready",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:39:51.823151+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdp2 has been classified as Green List (High Evidence).",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:39:39.735710+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDP2 as Green List (high evidence)",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:39:39.724188+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdp2 has been classified as Green List (High Evidence).",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:39:19.412380+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDP2 was added\ngene: TDP2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDP2 were set to 31410782; 30109272; 24658003\nPhenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949\nReview for gene: TDP2 was set to GREEN\nAdded comment: ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.\r\n\r\n1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair. \r\n\r\n1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene \r\n\r\n1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair. \nSources: Expert list",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:36:18.838193+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDP2 as ready",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:36:18.826452+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdp2 has been classified as Green List (High Evidence).",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:35:38.165274+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERT as ready",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:35:38.153529+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tert has been classified as Green List (High Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:34:59.385093+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TKT as ready",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:34:59.373508+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkt has been classified as Green List (High Evidence).",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:34:26.406716+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:34:26.395079+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:33:40.449989+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF7 as ready",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:33:40.438265+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf7 has been classified as Green List (High Evidence).",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2020-01-14T20:32:33.087293+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC11 as ready",
"entity_name": "TRAPPC11",
"entity_type": "gene"
}
]
}