HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220380,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2052",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2050",
"results": [
{
"created": "2019-12-11T07:33:07.578379+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C, MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:27:25.725834+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1194",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SPG7.\nSource Expert list was added to SPG7.\nMode of inheritance for gene SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive; OMIM #607259",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:24:47.787534+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1193",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, OMIM #607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:17:32.380443+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1193",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SPINK5 as Red List (low evidence)",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:17:32.373151+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1193",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: spink5 has been classified as Red List (Low Evidence).",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:17:15.356155+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1192",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SPINK5.\nSource Expert list was added to SPINK5.\nMode of inheritance for gene SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINK5 were changed from to Netherton syndrome; OMIM #256500",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:16:44.412142+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1191",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome, OMIM #256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:05:46.641092+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1191",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SPTLC1 as Red List (low evidence)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:05:46.633122+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1191",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Red List (Low Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:05:10.520542+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1190",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SPTLC1.\nSource Expert list was added to SPTLC1.\nMode of inheritance for gene SPTLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA; OMIM #162400",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:04:22.235668+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1189",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, OMIM #162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:02:00.085656+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1189",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from ST3GAL5.\nSource Expert list was added to ST3GAL5.\nMode of inheritance for gene ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome; OMIM #609056\nPublications for gene ST3GAL5 were changed from PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681 to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2019-12-10T23:01:31.147635+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1188",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15502825, 22990144, 24026681, 27232954, 30185102, 24026681; Phenotypes: Salt and pepper developmental regression syndrome, OMIM #609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:56:38.495640+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1188",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: ST7 as Red List (low evidence)",
"entity_name": "ST7",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:56:38.488719+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1188",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: st7 has been classified as Red List (Low Evidence).",
"entity_name": "ST7",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:56:24.710612+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1187",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: ST7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ST7",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:55:19.006020+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1187",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: STAC3 as Red List (low evidence)",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:55:18.995946+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1187",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: stac3 has been classified as Red List (Low Evidence).",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:55:07.373712+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1186",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from STAC3.\nSource Expert list was added to STAC3.\nMode of inheritance for gene STAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAC3 were changed from to Myopathy, congenital, Baily-Bloch; OMIM #255995",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:54:44.111636+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1185",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, OMIM #255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:52:50.563412+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1185",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: STAT5B as Red List (low evidence)",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:52:50.555688+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1185",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: stat5b has been classified as Red List (Low Evidence).",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:52:39.176451+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1184",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from STAT5B.\nSource Expert list was added to STAT5B.\nMode of inheritance for gene STAT5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency; OMIM #245590",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:52:10.274968+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1183",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: STAT5B: Changed phenotypes: Growth hormone insensitivity with immunodeficiency, OMIM #245590; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:51:28.278247+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1183",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:48:25.871884+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1183",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: STK3 as Red List (low evidence)",
"entity_name": "STK3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:48:25.865110+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1183",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: stk3 has been classified as Red List (Low Evidence).",
"entity_name": "STK3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:48:09.116498+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1182",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: STK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STK3",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:47:06.277168+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1182",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: STT3A as Red List (low evidence)",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:47:06.269530+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1182",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: stt3a has been classified as Red List (Low Evidence).",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:46:52.898186+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1181",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from STT3A.\nSource Expert list was added to STT3A.\nMode of inheritance for gene STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STT3A were changed from to ?Congenital disorder of glycosylation, type Iw; OMIM #615596\nPublications for gene STT3A were changed from PMID: 23842455 to PMID: 23842455",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:46:13.782935+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1180",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: STT3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:44:41.155649+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1180",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: STT3B as Red List (low evidence)",
"entity_name": "STT3B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:44:41.146823+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1180",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: stt3b has been classified as Red List (Low Evidence).",
"entity_name": "STT3B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:44:22.220014+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1179",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from STT3B.\nSource Expert list was added to STT3B.\nMode of inheritance for gene STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STT3B were changed from to ?Congenital disorder of glycosylation, type Ix; OMIM #615597\nPublications for gene STT3B were changed from PMID: 23842455 to PMID: 23842455",
"entity_name": "STT3B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:43:54.477632+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1178",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23842455; Phenotypes: ?Congenital disorder of glycosylation, type Ix, OMIM #615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STT3B",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:30:22.302680+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1178",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SUCLA2.\nSource Expert list was added to SUCLA2.\nMode of inheritance for gene SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073\nPublications for gene SUCLA2 were changed from PMID: 27913098; 15877282; 23759946; 17287286; 17301081 to PMID: 27913098; 15877282; 23759946; 17287286; 17301081",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:29:39.961505+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1177",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27913098, 15877282, 23759946, 17287286, 17301081; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM #612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:22:11.402162+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1177",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SUMF1.\nSource Expert list was added to SUMF1.\nMode of inheritance for gene SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency; OMIM #272200",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:21:51.461961+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1176",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple sulfatase deficiency, OMIM #272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:17:33.773139+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1176",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SUZ12 as Green List (high evidence)",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:17:33.765642+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1176",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: suz12 has been classified as Green List (High Evidence).",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:17:08.981320+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1175",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SUZ12 was added\ngene: SUZ12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUZ12 were set to PMID: 31736240; 30019515; 28229514\nPhenotypes for gene: SUZ12 were set to no OMIM number yet.\nReview for gene: SUZ12 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:11:50.576326+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1174",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SYT1 as Green List (high evidence)",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:11:50.568741+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1174",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: syt1 has been classified as Green List (High Evidence).",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2019-12-10T22:11:21.288652+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1173",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SYT1 was added\ngene: SYT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYT1 were set to PubMed: 30107533\nPhenotypes for gene: SYT1 were set to Baker-Gordon syndrome; OMIM #618218\nReview for gene: SYT1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:23:49.135128+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCA as ready",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:23:49.128208+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgca has been classified as Red List (Low Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:23:44.712560+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCA were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:23:32.542707+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGCA as Red List (low evidence)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:23:32.535305+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgca has been classified as Red List (Low Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:23:20.905494+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099; Mode of inheritance: None",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:22:13.327045+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SFXN4 as ready",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:22:13.319375+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sfxn4 has been classified as Green List (High Evidence).",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:22:08.603745+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:21:54.355581+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SFXN4 were set to ",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:21:42.141710+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:21:29.520740+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:56.392558+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B4 as ready",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:56.383893+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b4 has been classified as Red List (Low Evidence).",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:44.623142+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B4 were changed from to Acrofacial dysostosis 1, Nager type, MIM#154400",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:29.533213+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SF3B4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:21.224562+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B4 as Red List (low evidence)",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:21.216968+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b4 has been classified as Red List (Low Evidence).",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T21:15:04.255705+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SF3B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM#154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2019-12-10T19:01:24.972434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPSECS as ready",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2019-12-10T19:01:24.964703+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2019-12-10T19:01:19.622946+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM#613811",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2019-12-10T19:01:06.841922+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPSECS were set to ",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2019-12-10T19:00:54.181172+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2019-12-10T19:00:37.750550+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 25044680; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM#613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:57:29.227958+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:50:23.300463+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENON as ready",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:50:23.292944+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenon has been classified as Red List (Low Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:50:08.355346+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1, MIM# 602771; Myopathy, congenital, with fiber-type disproportion, MIM# 255310",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:49:56.159434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:49:49.589849+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENON as Red List (low evidence)",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:49:49.581310+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenon has been classified as Red List (Low Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:49:36.929745+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, rigid spine, 1, MIM# 602771, Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:45:45.905945+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENOI as ready",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:45:45.898863+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Red List (Low Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:45:30.230602+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENOI was added\ngene: SELENOI was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SELENOI were set to 28052917\nPhenotypes for gene: SELENOI were set to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly\nReview for gene: SELENOI was set to RED\nAdded comment: Single family only, four sibs, supportive biochemical evidence. Borderline amber/red gene, only mild ID described, seems to be more of a progressive neurometabolic condition based on limited evidence. \nSources: Expert list",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:39:11.745170+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENOI as ready",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:39:11.737900+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Amber List (Moderate Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:39:03.303814+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:38:17.458189+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to ",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:38:09.810520+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:38:01.883821+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENOI as Amber List (moderate evidence)",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:38:01.875889+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Amber List (Moderate Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T18:37:41.517737+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:29:12.680614+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENOI as ready",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:29:12.672951+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Amber List (Moderate Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:29:08.477029+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to ",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:28:46.461751+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:28:26.941555+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:28:05.199918+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENOI as Amber List (moderate evidence)",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:28:05.190994+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Amber List (Moderate Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:27:38.201350+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:18:17.867849+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1157",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TACO1 as Amber List (moderate evidence)",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:18:17.860453+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1157",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: taco1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TACO1",
"entity_type": "gene"
}
]
}