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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2051",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2049",
"results": [
{
"created": "2019-12-11T10:38:55.490674+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 31361404, 28513610; Phenotypes: Weiss-Kruszka syndrome, OMIM# 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:26:31.335002+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTI1 as ready",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:26:31.323905+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:26:23.646169+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from intellectual disability; seizures; cerebellar atrophy to Intellectual disability",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:26:02.778155+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI1 as Amber List (moderate evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:26:02.770893+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:25:51.140393+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTI1 was added\ngene: TTI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTI1 were set to 26539891; 30315573\nPhenotypes for gene: TTI1 were set to intellectual disability; seizures; cerebellar atrophy\nReview for gene: TTI1 was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:07:51.965150+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1252",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: SLC25A4: Changed rating: RED",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:07:15.766138+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1252",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: SLC25A4: Changed rating: AMBER",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:07:06.195071+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1252",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30013777, 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM #617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, OMIM #615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, OMIM #609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:04:27.842051+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A4 as ready",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:04:27.834166+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:04:03.289002+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:03:49.943718+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:03:41.845183+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A4 as Red List (low evidence)",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:03:41.838156+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:03:29.567901+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:00:53.026709+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1249",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC29A3 as Red List (low evidence)",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:00:53.019398+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1249",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:00:39.124356+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1248",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SLC29A3.\nSource Expert list was added to SLC29A3.\nMode of inheritance for gene SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome; OMIM #602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T10:00:14.773424+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1247",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, OMIM #602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:57:29.415414+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1247",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC2A10 as Red List (low evidence)",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:57:29.406862+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1247",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:57:05.781782+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1246",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SLC2A10.\nSource Expert list was added to SLC2A10.\nMode of inheritance for gene SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome; OMIM #208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:56:34.048384+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1245",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, OMIM #208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:55:11.874985+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1245",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC35A3 as Amber List (moderate evidence)",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:55:11.867428+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1245",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc35a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:54:54.781423+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1244",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SLC35A3.\nSource Expert list was added to SLC35A3.\nMode of inheritance for gene SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35A3 were changed from to ?Arthrogryposis, mental retardation, and seizures; OMIM #615553\nPublications for gene SLC35A3 were changed from PMID: 28328131; 24031089 to PMID: 28328131; 24031089",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:54:24.595384+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1243",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28328131, 24031089; Phenotypes: ?Arthrogryposis, mental retardation, and seizures, OMIM #615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:49:24.928697+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1243",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC39A4 as Red List (low evidence)",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:49:24.920729+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1243",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc39a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:49:12.387097+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1242",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SLC39A4.\nSource Expert list was added to SLC39A4.\nMode of inheritance for gene SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica; OMIM #201100",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:48:42.816241+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1241",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC39A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, OMIM #201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:48:20.069973+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A20 as ready",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:48:20.063147+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:48:14.885806+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM#212138",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:48:08.206502+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:47:25.776419+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A20 as Red List (low evidence)",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:47:25.768924+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:47:22.328308+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1238",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC5A2 as Red List (low evidence)",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:47:22.320482+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1238",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc5a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:47:13.316396+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:47:05.863100+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1237",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SLC5A2.\nSource Expert list was added to SLC5A2.\nMode of inheritance for gene SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A2 were changed from to Renal glucosuria; OMIM #233100",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:46:49.034136+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1236",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, OMIM #233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:45:34.103658+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1236",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC9A7 as Amber List (moderate evidence)",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:45:34.094317+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1236",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc9a7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:45:22.706924+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1235",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SLC9A7.\nSource Expert list was added to SLC9A7.\nMode of inheritance for gene SLC9A7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC9A7 were changed from to Intellectual developmental disorder, X-linked 108; OMIM #301024\nPublications for gene SLC9A7 were changed from PubMed: 30335141 to PubMed: 30335141",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:44:49.481384+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1234",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM #301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:43.356935+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1234",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SMCHD1 as Red List (low evidence)",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:43.348397+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1234",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: smchd1 has been classified as Red List (Low Evidence).",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:37.993638+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A19 as ready",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:37.986241+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:32.438472+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:31.871595+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1233",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SMCHD1.\nSource Expert list was added to SMCHD1.\nMode of inheritance for gene SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:17.395827+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A19 were set to ",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:10.018444+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1231",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:41:03.608433+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:40:52.708225+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A19 as Amber List (moderate evidence)",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:40:52.700641+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:40:40.557851+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:38:41.860362+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1229",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SMG6 as Red List (low evidence)",
"entity_name": "SMG6",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:38:41.853297+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1229",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: smg6 has been classified as Red List (Low Evidence).",
"entity_name": "SMG6",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:38:27.895027+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1228",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SMG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMG6",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:37:34.644318+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1228",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SNAP25 as Green List (high evidence)",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:37:34.636653+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1228",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: snap25 has been classified as Green List (High Evidence).",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:37:15.762997+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1227",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: SNAP25 was added\ngene: SNAP25 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNAP25 were set to PMID: 25003006; 29100083; 28135719\nPhenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18; OMIM #616330\nReview for gene: SNAP25 was set to GREEN\nAdded comment: ID neurodevelopmental disorder rather than muscle disorder, so OMIM entry needs to be edited.\r\n> 5 patients reported. \nSources: Expert list",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:32:27.819989+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A13 as ready",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:32:27.812672+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a13 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:32:20.339174+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM#605814",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:32:08.635571+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:32:00.968949+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A13 as Red List (low evidence)",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:32:00.959052+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a13 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:31:44.354167+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:29:33.122063+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:29:33.114681+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:29:28.815011+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM#212140",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:29:16.226851+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC22A5 as Red List (low evidence)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:29:16.220065+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:29:03.775671+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM#212140; Mode of inheritance: None",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:28:36.434442+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1221",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SNRPA as Red List (low evidence)",
"entity_name": "SNRPA",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:28:36.427546+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1221",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: snrpa has been classified as Red List (Low Evidence).",
"entity_name": "SNRPA",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:28:26.453781+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1220",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SNRPA.\nSource Expert list was added to SNRPA.\nMode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNRPA were changed from to no OMIM # yet\nPublications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235",
"entity_name": "SNRPA",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:28:00.417340+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1219",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SNRPA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29437235; Phenotypes: no OMIM number yet; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNRPA",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:26:31.596284+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:26:31.589495+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:26:27.120316+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM#213600",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:26:15.345951+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:26:07.755603+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC20A2 as Red List (low evidence)",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:26:07.748262+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:25:54.732455+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM#213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:25:16.909499+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1216",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SNRPN as Amber List (moderate evidence)",
"entity_name": "SNRPN",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:25:16.901356+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1216",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: snrpn has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNRPN",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:25:04.975665+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1215",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SNRPN.\nSource Expert list was added to SNRPN.\nMode of inheritance for gene SNRPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPhenotypes for gene: SNRPN were changed from to Prader-Willi syndrome; OMIM #176270",
"entity_name": "SNRPN",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:24:44.212141+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1214",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SNRPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, OMIM #176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SNRPN",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:22:19.714167+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:22:05.163905+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SLC1A3: ID is not part of the phenotype.",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:21:54.342669+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1214",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SOST as Red List (low evidence)",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:21:54.335084+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1214",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: sost has been classified as Red List (Low Evidence).",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:21:44.394987+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1213",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from SOST.\nSource Expert list was added to SOST.\nMode of inheritance for gene SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SOST were changed from to Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860; Sclerosteosis 1 , OMIM #269500; Van Buchem disease, OMIM #239100",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2019-12-11T09:21:25.438777+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1212",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SOST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860, Sclerosteosis 1 , OMIM #269500, Van Buchem disease, OMIM #239100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SOST",
"entity_type": "gene"
}
]
}