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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2072",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2070",
"results": [
{
"created": "2019-12-05T10:43:21.800706+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNMT as ready",
"entity_name": "HNMT",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:43:21.792546+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnmt has been classified as Green List (High Evidence).",
"entity_name": "HNMT",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:43:16.136862+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNMT were changed from to Mental retardation, autosomal recessive 51, MIM#616739",
"entity_name": "HNMT",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:43:01.899217+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNMT were set to ",
"entity_name": "HNMT",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:42:48.748583+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HNMT",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:42:35.639972+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26206890, 30744146; Phenotypes: Mental retardation, autosomal recessive 51, MIM#616739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HNMT",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:39:13.807436+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.394",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ID reported in this type of HSP in 2 families.\r\n\r\nZivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay.; to: ID reported in this type of HSP in 2 families.\r\n\r\nZivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay. Functional studied performed.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:59.154322+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAL as ready",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:59.147199+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hal has been classified as Red List (Low Evidence).",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:53.367112+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAL were changed from to [Histidinemia], MIM#235800",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:39.784736+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAL were set to ",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:21.660563+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HAL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:09.860592+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAL as Red List (low evidence)",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:37:09.830298+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hal has been classified as Red List (Low Evidence).",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:36:56.621676+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAL: Rating: RED; Mode of pathogenicity: None; Publications: 4421298, 7119955; Phenotypes: [Histidinemia], MIM#235800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:34:09.476758+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UCHL1 as Red List (low evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:34:09.469235+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Red List (Low Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:33:59.855916+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.389",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UCHL1.\nSource Expert list was added to UCHL1.\nMode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:33:27.089112+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM #615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:30:23.100486+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UFM1 as Green List (high evidence)",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:30:23.093313+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:30:11.207612+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: UFM1: 20 families reported with encephalopathy/ID phenotype with functional studies.",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:28:14.140987+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UFM1 was added\ngene: UFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFM1 were set to PubMed: 27545674; 27545681; 28931644\nPhenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14; OMIM #617899\nReview for gene: UFM1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:25:55.042749+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.386",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UGT1A1 as Red List (low evidence)",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:25:54.997383+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.386",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ugt1a1 has been classified as Red List (Low Evidence).",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:25:46.154904+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.385",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UGT1A1.\nSource Expert list was added to UGT1A1.\nMode of inheritance for gene UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I, OMIM #218800; Crigler-Najjar syndrome, type II, OMIM #606785",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:25:29.663053+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.384",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:24:03.933661+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.384",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UNC13D as Red List (low evidence)",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:24:03.926119+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.384",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: unc13d has been classified as Red List (Low Evidence).",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:23:50.183103+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.383",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UNC13D.\nSource Expert list was added to UNC13D.\nMode of inheritance for gene UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were changed from to Hemophagocytic lymphohistiocytosis, familial, 3; OMIM #608898",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:23:37.530241+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.382",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, OMIM #608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:22:27.696732+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.382",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UQCC2.\nSource Expert list was added to UQCC2.\nMode of inheritance for gene UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7; OMIM #615824\nPublications for gene UQCC2 were changed from PubMed: 28804536; 24385928 to PubMed: 28804536; 24385928",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:22:01.756253+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.381",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UQCC2 as Amber List (moderate evidence)",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:22:01.743458+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.381",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uqcc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:21:49.596858+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.380",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM #615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:19:49.072584+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.380",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UQCRB as Red List (low evidence)",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:19:49.064714+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.380",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uqcrb has been classified as Red List (Low Evidence).",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:19:18.087443+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.379",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UQCRB.\nSource Expert list was added to UQCRB.\nMode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158\nPublications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:18:56.630545+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.378",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 12709789, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, OMIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:15:36.708304+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.378",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UQCRC2.\nSource Expert list was added to UQCRC2.\nMode of inheritance for gene UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5; OMIM #615160",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:15:05.725838+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.377",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UQCRC2 as Red List (low evidence)",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:15:05.717650+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.377",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uqcrc2 has been classified as Red List (Low Evidence).",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:14:56.081733+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.376",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UQCRC2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM #615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:09:56.676848+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.376",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UQCRQ as Amber List (moderate evidence)",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:09:56.669415+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.376",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:09:46.837575+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.375",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from UQCRQ.\nSource Expert list was added to UQCRQ.\nMode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159\nPublications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:09:19.128317+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.374",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:06:42.108218+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.374",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Red List (low evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:06:42.101152+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.374",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Red List (Low Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:06:27.149964+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.373",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, OMIM #108600, Myasthenic syndrome, congenital, 25, OMIM #618323; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:06:07.881853+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.373",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VAMP1.\nSource Expert list was added to VAMP1.\nMode of inheritance for gene VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, OMIM #108600; Myasthenic syndrome, congenital, 25, OMIM #618323",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:04:30.688059+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.372",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VANGL1 as Red List (low evidence)",
"entity_name": "VANGL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:04:30.680705+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.372",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vangl1 has been classified as Red List (Low Evidence).",
"entity_name": "VANGL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:04:21.136146+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.371",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Caudal regression syndrome, OMIM #600145, {Neural tube defects, susceptibility to}, OMIM #182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VANGL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:04:04.984582+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.371",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VANGL1.\nSource Expert list was added to VANGL1.\nMode of inheritance for gene VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, OMIM #600145; {Neural tube defects, susceptibility to}, OMIM #182940",
"entity_name": "VANGL1",
"entity_type": "gene"
},
{
"created": "2019-12-05T10:00:35.196910+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.370",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VARS2.\nSource Expert list was added to VARS2.\nMode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917\nPublications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:59:47.456633+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.369",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:59:41.190820+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.369",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: VARS2: Added comment: Multiple patients reported with ID, encephalopathy as part of this mitochondrial disorder.; Changed rating: GREEN; Changed publications: PubMed: 24827421, 25058219, 29137650, 29314548, 31064326",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:56:49.600552+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.369",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24827421, 25058219,; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:54:43.314374+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.369",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VIPAS39.\nSource Expert list was added to VIPAS39.\nMode of inheritance for gene VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2; OMIM #613404\nPublications for gene VIPAS39 were changed from PMID: 20190753 to PMID: 20190753",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:54:15.630577+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.368",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:48:00.240416+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.368",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VPS33B.\nSource Expert list was added to VPS33B.\nMode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085\nPublications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:47:26.476873+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.367",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:44:22.862573+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.367",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VPS37A as Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:44:22.854953+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.367",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:44:12.527976+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.366",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VPS37A.\nSource Expert list was added to VPS37A.\nMode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898\nPublications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:43:27.306437+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.365",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, OMIM #614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:40:55.228786+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.365",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VPS45 as Red List (low evidence)",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:40:55.217634+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.365",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Red List (Low Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:40:45.451373+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.364",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from VPS45.\nSource Expert list was added to VPS45.\nMode of inheritance for gene VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS45 were changed from to Neutropenia, severe congenital, 5, autosomal recessive; OMIM #615285",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:40:27.982572+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.363",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, OMIM #615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:35:14.592453+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.363",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WASF1 as Green List (high evidence)",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:35:14.585365+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.363",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wasf1 has been classified as Green List (High Evidence).",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:35:03.133244+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.362",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: WASF1: Added comment: 5 unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. Functional studies using fibroblast cells from two affected individuals showed a truncated WASF1 and a defect in actin remodeling.; Changed phenotypes: No OMIM phenotype # yet.",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:34:13.869529+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.362",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WASF1 was added\ngene: WASF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WASF1 were set to PMID: 29961568\nReview for gene: WASF1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:32:37.165063+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.361",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WASHC4 as Amber List (moderate evidence)",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:32:37.157529+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.361",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: washc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:32:29.412706+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.360",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WASHC4.\nSource Expert list was added to WASHC4.\nMode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817\nPublications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:32:06.295767+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.359",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WASHC4: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21498477; Phenotypes: ?Mental retardation, autosomal recessive 43, OMIM #615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:29:17.851376+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.359",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WASHC5 as Amber List (moderate evidence)",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:29:17.843636+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.359",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: washc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:29:06.906254+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.358",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WASHC5.\nSource Expert list was added to WASHC5.\nMode of inheritance for gene WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: WASHC5 were changed from to Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210\nPublications for gene WASHC5 were changed from PubMed: 24065355 to PubMed: 24065355",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:28:26.381110+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24065355; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM #603563, Ritscher-Schinzel syndrome 1, OMIM #220210; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:24:26.894251+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR11 as Red List (low evidence)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:24:26.886809+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Red List (Low Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:24:16.709504+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM #614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:23:15.303395+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR13 as Red List (low evidence)",
"entity_name": "WDR13",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:23:15.292837+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr13 has been classified as Red List (Low Evidence).",
"entity_name": "WDR13",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:23:05.102528+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.355",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WDR13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR13",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:22:19.132968+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.355",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR19 as Red List (low evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:22:19.124315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.355",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Red List (Low Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:22:18.791198+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.355",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR19 as Red List (low evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:22:18.782040+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.355",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Red List (Low Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:22:06.179418+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.354",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:21:52.408438+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.354",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: WDR19 were changed from ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR\t3 Nephronophthisis 13\t614377\tAR\t3 Senior-Loken syndrome 8\t616307 to ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376; Nephronophthisis 13, OMIM #614377; Senior-Loken syndrome 8, OMIM#616307",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:21:03.314353+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.353",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WDR19.\nSource Expert list was added to WDR19.\nMode of inheritance for gene WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR19 were changed from to ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR\t3 Nephronophthisis 13\t614377\tAR\t3 Senior-Loken syndrome 8\t616307",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:19:19.140554+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.352",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR34 as Red List (low evidence)",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:19:19.132951+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.352",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr34 has been classified as Red List (Low Evidence).",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:19:10.158273+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.351",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from WDR34.\nSource Expert list was added to WDR34.\nMode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2019-12-05T09:18:43.314652+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.350",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR34",
"entity_type": "gene"
}
]
}