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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2070",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2068",
"results": [
{
"created": "2019-12-05T19:00:09.413803+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF2 were set to ",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:59:59.411254+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:59:39.627355+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:58:27.691804+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:58:09.376898+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF2 were set to ",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:57:56.555011+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGF2 as Red List (low evidence)",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:57:56.544518+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf2 has been classified as Red List (Low Evidence).",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T18:57:43.474301+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF2: Rating: RED; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: None",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:52:50.429649+11:00",
"panel_name": "Central Hypoventilation_VCGS",
"panel_id": 71,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A2 as ready",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:52:50.422774+11:00",
"panel_name": "Central Hypoventilation_VCGS",
"panel_id": 71,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:52:43.080458+11:00",
"panel_name": "Central Hypoventilation_VCGS",
"panel_id": 71,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC52A2 as Green List (high evidence)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:52:43.072427+11:00",
"panel_name": "Central Hypoventilation_VCGS",
"panel_id": 71,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:46:12.264198+11:00",
"panel_name": "Central Hypoventilation_VCGS",
"panel_id": 71,
"panel_version": "0.1",
"user_name": "Tegan French",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Central Hypoventilation_VCGS. Sources: Expert list\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to 22864630; 23243084\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2; 614707\nReview for gene: SLC52A2 was set to GREEN\ngene: SLC52A2 was marked as current diagnostic\nAdded comment: Brown-Vialetto-Van Laere syndrome 2\r\nOMIM phenotype 614707\r\nNeonatal hypoventilation is a feature of this condition. Patients may benefit from high dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014). \nSources: Expert list",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:24:25.111461+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:24:12.311994+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT27 were set to ",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:23:44.657545+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:23:30.791036+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-12-05T16:16:41.619263+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:58:50.569042+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.473",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNF135 as Red List (low evidence)",
"entity_name": "RNF135",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:58:50.563333+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.473",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: d/w Z.Stark - see review",
"entity_name": "RNF135",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:58:50.532921+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.473",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnf135 has been classified as Red List (Low Evidence).",
"entity_name": "RNF135",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:49:45.799115+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:49:45.791098+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:49:43.213973+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS2 were changed from Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390 to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:49:20.727979+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARS2 as Amber List (moderate evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:49:20.720920+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:48:56.736021+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS2 were set to ",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:48:38.183258+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:48:15.520809+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:47:58.570170+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARS2 as Amber List (moderate evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:47:58.182206+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:47:28.465504+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:42:53.439672+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.472",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MYMK as Red List (low evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:42:53.436232+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.472",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: r/v with Dr Stark - not ID gene.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:42:53.415536+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.472",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mymk has been classified as Red List (Low Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:40:30.556677+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.471",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Only 2 patients with mitochondrial disorder reported and they had ID; to: Only 2 patients with mitochondrial disorder reported and they had ID, with some functional evidence.",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:37:56.941376+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.471",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UQCRQ as Red List (low evidence)",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:37:56.938126+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.471",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: r/v with Z.Stark - one family and no reports >10 years.",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:37:56.919768+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.471",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Red List (Low Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:36:59.770412+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.470",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VPS37A as Green List (high evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:36:59.766911+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.470",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: r/v with Z.Stark - 2 families with functional data.",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:36:59.746613+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.470",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Green List (High Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:31:31.369407+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.469",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WASHC4 as Red List (low evidence)",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:31:31.365813+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.469",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: r/v with Z.Stark - single family with limited functional evidence",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:31:31.347491+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.469",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: washc4 has been classified as Red List (Low Evidence).",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:30:29.977831+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.468",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WASHC5 as Red List (low evidence)",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:30:29.974589+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.468",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: reviewed with Z.Stark - one family with founder mutation",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:30:29.952947+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.468",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: washc5 has been classified as Red List (Low Evidence).",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:25:51.617127+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.467",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Red List (low evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:25:51.613548+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.467",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: reviewed with Zornitza stark - single family only.",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:25:51.594600+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.467",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:24:51.800481+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.466",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Red List (low evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:24:51.793395+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.466",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:23:48.273975+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.465",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZNF674 as Red List (low evidence)",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:23:48.266335+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.465",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: znf674 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:19:42.398029+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUOXA2 as Red List (low evidence)",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:19:42.387639+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duoxa2 has been classified as Red List (Low Evidence).",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:19:28.083621+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DUOXA2: Changed rating: RED",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:16:28.842306+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCK as Red List (low evidence)",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:16:28.834288+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gck has been classified as Red List (Low Evidence).",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-05T14:16:14.327541+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GCK: Changed rating: RED",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:26:12.117653+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.462",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MYO7A as Red List (low evidence)",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:26:12.109964+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.462",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: myo7a has been classified as Red List (Low Evidence).",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:26:01.865758+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.461",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MYO7A.\nSource Expert list was added to MYO7A.\nMode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:25:45.645505+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.460",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 11, OMIM #601317, Deafness, autosomal recessive 2, OMIM #600060, Usher syndrome, type 1B, OMIM #276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:24:00.080576+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.460",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MYMK as Amber List (moderate evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:24:00.067759+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.460",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mymk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:23:50.425620+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.459",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MYMK.\nSource Expert list was added to MYMK.\nMode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:23:35.328790+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.458",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:17:46.813426+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.458",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MYH3 as Red List (low evidence)",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:17:46.806286+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.458",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: myh3 has been classified as Red List (Low Evidence).",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:17:35.997529+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.457",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MYH3.\nSource Expert list was added to MYH3.\nMode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:17:15.868420+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.456",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:11:59.118355+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.456",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MTPAP as Red List (low evidence)",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:11:59.110165+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.456",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Red List (Low Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:11:40.291264+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.455",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MTPAP.\nSource Expert list was added to MTPAP.\nMode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:11:20.213836+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.454",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:05:26.904920+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.454",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2019-12-05T13:05:18.291386+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.454",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: MTO1: Added comment: ID is seen as part of this mitochondrial disorder - >35 families reported; Changed publications: PMID: 26061759, 29331171, 23929671",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:58:47.498862+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.454",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MTO1.\nSource Expert list was added to MTO1.\nMode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702\nPublications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:57:45.415683+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.453",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26061759, 29331171; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:53:20.233455+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.453",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MTMR2 as Red List (low evidence)",
"entity_name": "MTMR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:53:20.224683+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.453",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mtmr2 has been classified as Red List (Low Evidence).",
"entity_name": "MTMR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:53:10.181961+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.452",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MTMR2.\nSource Expert list was added to MTMR2.\nMode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382",
"entity_name": "MTMR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:52:31.899105+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.451",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MTMR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, OMIM #601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTMR2",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:51:59.812639+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:51:59.804003+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Red List (Low Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:51:55.389620+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:51:38.550764+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT140 as Red List (low evidence)",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:51:38.543343+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Red List (Low Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:51:25.374143+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:45:58.774724+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.449",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MSH6.\nSource Expert list was added to MSH6.\nMode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:45:22.105205+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.448",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH6 as Red List (low evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:45:22.097391+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.448",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Red List (Low Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:45:11.925405+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.447",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MSH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350, Mismatch repair cancer syndrome, OMIM #276300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:44:25.928384+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.447",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MTM1 as Red List (low evidence)",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:44:25.921364+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.447",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Red List (Low Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:44:14.883369+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.446",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from MTM1.\nSource Expert list was added to MTM1.\nMode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:43:53.306065+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.445",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotubular myopathy, X-linked, OMIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2019-12-05T12:42:43.774841+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.445",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MRPS16 as Red List (low evidence)",
"entity_name": "MRPS16",
"entity_type": "gene"
}
]
}