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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2053",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2051",
"results": [
{
"created": "2019-12-10T17:11:00.809450+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1155",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: taf8 has been classified as Red List (Low Evidence).",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:10:49.286041+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1154",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TAF8.\nSource Expert list was added to TAF8.\nMode of inheritance for gene TAF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene TAF8 were changed from PMID: 29648665 to PMID: 29648665",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:10:22.684930+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1153",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TAF8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29648665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAF8",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:07:45.563225+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1153",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:07:40.281767+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1153",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: TBC1D20: Added comment: Liegel et al. (2013) analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients diagnosed with Warburg Micro syndrome from 5 families of different ethnic origins. Evaluation of human fibroblasts deficient in TBC1D20 function identified aberrant lipid droplet formation.; Changed rating: GREEN",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:07:08.464429+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1153",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TBC1D20.\nSource Expert list was added to TBC1D20.\nMode of inheritance for gene TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4; OMIM #615663\nPublications for gene TBC1D20 were changed from PubMed: 24239381 to PubMed: 24239381",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:06:47.533492+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1152",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM #615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D20",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:01:55.402930+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1152",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TCTN3 as Amber List (moderate evidence)",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:01:55.395664+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1152",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:01:45.643264+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1151",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TCTN3.\nSource Expert list was added to TCTN3.\nMode of inheritance for gene TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860\nPublications for gene TCTN3 were changed from PubMed: 22883145; 25118024; 26092869 to PubMed: 22883145; 25118024; 26092869",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-12-10T17:01:26.492688+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1150",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22883145, 25118024, 26092869; Phenotypes: Joubert syndrome 18, OMIM #614815, Orofaciodigital syndrome IV, OMIM #258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:58:14.145146+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1150",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SDHD from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-10T16:53:20.422415+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1149",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TDGF1 as Red List (low evidence)",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:53:20.415050+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1149",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tdgf1 has been classified as Red List (Low Evidence).",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:53:09.717123+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1148",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TDGF1.\nSource Expert list was added to TDGF1.\nPublications for gene TDGF1 were changed from PMID: 12073012 to PMID: 12073012",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:52:53.482625+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: TDGF1: Added comment: No OMIM number listed.\r\n\r\n1 patient with TDGF1 mutation with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.; Changed publications: PMID: 12073012; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:48:53.291759+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:48:07.389030+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863, HSAN2D, autosomal recessive, MIM#243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:45:27.192456+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TDGF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:45:12.487806+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1B as ready",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:45:12.477915+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been classified as Green List (High Evidence).",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:44:53.923037+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1B were changed from to Epileptic encephalopathy, early infantile, 52, MIM#617350",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:44:40.267341+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:44:27.391243+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:43:52.469870+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1145",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TDP2.\nSource Expert list was added to TDP2.\nMode of inheritance for gene TDP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TDP2 were changed from to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949\nPublications for gene TDP2 were changed from PMID: 31410782; 30109272; 24658003 to PMID: 31410782; 30109272; 24658003",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:43:33.891724+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1144",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31410782, 30109272, 24658003; Phenotypes: Spinocerebellar ataxia, autosomal recessive 23, OMIM #616949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:35:23.170752+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1144",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TERT.\nSource Expert list was added to TERT.\nMode of inheritance for gene TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TERT were changed from to Dyskeratosis congenita, autosomal dominant 2, OMIM #613989; Dyskeratosis congenita, autosomal recessive 4, OMIM #613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:35:04.652296+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1143",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2, OMIM #613989, Dyskeratosis congenita, autosomal recessive 4, OMIM #613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:29:02.170861+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1143",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:28:59.120217+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1143",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TFAP2A as Red List (low evidence)",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:28:59.113292+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1143",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tfap2a has been classified as Red List (Low Evidence).",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:28:47.098444+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1142",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TFAP2A.\nSource Expert list was added to TFAP2A.\nMode of inheritance for gene TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome; OMIM #113620",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:28:23.489404+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1141",
"user_name": "chirag patel",
"item_type": "entity",
"text": "commented on gene: TFAP2A: no ID as part of phenotype.",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:28:23.149433+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1141",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TFAP2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, OMIM #113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:27:11.393549+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1141",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TFAP2B as Red List (low evidence)",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:27:11.386471+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1141",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tfap2b has been classified as Red List (Low Evidence).",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:27:01.367532+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1140",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TFAP2B.\nSource Expert list was added to TFAP2B.\nMode of inheritance for gene TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TFAP2B were changed from to Char syndrome, OMIM #169100; Patent ductus arteriosus 2, OMIM #617035",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:26:42.897687+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1139",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, OMIM #169100, Patent ductus arteriosus 2, OMIM #617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:25:29.169107+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1139",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TFG as Red List (low evidence)",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:25:29.161661+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1139",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tfg has been classified as Red List (Low Evidence).",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:25:17.914974+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1138",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TFG.\nSource Expert list was added to TFG.\nMode of inheritance for gene TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, OMIM #615658; Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:25:03.855782+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1137",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, OMIM #615658, Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:23:29.488047+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1137",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TG as Red List (low evidence)",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:23:29.481157+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1137",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tg has been classified as Red List (Low Evidence).",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:23:19.273389+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1136",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TG.\nSource Expert list was added to TG.\nMode of inheritance for gene TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3; OMIM #274700",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:23:03.136974+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1135",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, OMIM #274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:21:39.230913+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1135",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TGFBR1 as Red List (low evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:21:39.220964+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1135",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Red List (Low Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:21:16.544625+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1134",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TGFBR1.\nSource Expert list was added to TGFBR1.\nMode of inheritance for gene TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1; OMIM #609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:20:58.973936+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1133",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, OMIM #609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:20:13.481877+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1133",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TGFBR2 as Red List (low evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:20:13.474196+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1133",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Red List (Low Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:20:04.076697+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1132",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TGFBR2.\nSource Expert list was added to TGFBR2.\nMode of inheritance for gene TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2; OMIM #610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:19:47.785593+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1131",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM #610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:18:11.133192+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1131",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: THAP1 as Red List (low evidence)",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:18:11.125791+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1131",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: thap1 has been classified as Red List (Low Evidence).",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:18:01.515516+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1130",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from THAP1.\nSource Expert list was added to THAP1.\nMode of inheritance for gene THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THAP1 were changed from to Dystonia 6, torsion; OMIM #602629",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:17:42.980286+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1129",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 6, torsion, OMIM #602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:16:43.101271+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1129",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TIMM8A as Red List (low evidence)",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:16:43.093182+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1129",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: timm8a has been classified as Red List (Low Evidence).",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:16:33.637462+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1128",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TIMM8A.\nSource Expert list was added to TIMM8A.\nMode of inheritance for gene TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome; OMIM #304700",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:16:17.866152+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1127",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, OMIM #304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:14:14.774845+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1127",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from TKT.\nSource Expert list was added to TKT.\nMode of inheritance for gene TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044\nPublications for gene TKT were changed from PubMed: 27259054 to PubMed: 27259054",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2019-12-10T16:13:36.235853+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1126",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2019-12-10T14:50:36.296852+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1126",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: TNRC6B as Red List (low evidence)",
"entity_name": "TNRC6B",
"entity_type": "gene"
},
{
"created": "2019-12-10T14:50:36.288508+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1126",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: tnrc6b has been classified as Red List (Low Evidence).",
"entity_name": "TNRC6B",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:42.843124+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN11A as ready",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:42.835961+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Red List (Low Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:38.152895+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN11A were changed from to Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:24.240265+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:17.180161+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN11A as Red List (low evidence)",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:17.172832+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Red List (Low Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:30:02.262580+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:28:05.703631+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBF1 as ready",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:28:05.695900+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbf1 has been classified as Green List (High Evidence).",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:27:47.009330+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:27:33.658263+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBF1 were set to ",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:27:21.824891+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T12:27:08.849991+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24799518, 23749797, 30039846, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:36:01.168059+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:36:01.160393+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Red List (Low Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:35:56.776520+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM#260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:35:45.523228+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBDS were set to ",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:35:37.188072+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:35:30.310289+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SBDS as Red List (low evidence)",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:35:30.302456+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Red List (Low Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:35:17.122357+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:05:31.280906+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARS2 as ready",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:05:31.273546+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Green List (High Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:05:26.616363+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:05:12.327098+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SARS2 were set to ",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:05:03.208998+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2019-12-10T11:04:50.617930+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255763, 24034276; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:56.194234+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SALL1 as ready",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:56.187201+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall1 has been classified as Red List (Low Evidence).",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:47.172769+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:36.358082+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:28.779390+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SALL1 as Red List (low evidence)",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:28.771286+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall1 has been classified as Red List (Low Evidence).",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2019-12-10T10:53:17.630169+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL1",
"entity_type": "gene"
}
]
}