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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1909",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1907",
"results": [
{
"created": "2020-03-06T18:52:08.628611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man1b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:51:58.967211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:51:35.963878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAN1B1 were set to ",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:51:12.728308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:50:15.659075+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2C as ready",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:50:15.645655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:50:07.468665+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:49:39.182481+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:49:00.582115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 2, MIM#617768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:47:53.762450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2C as ready",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:47:53.745132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:47:46.159952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:47:19.354838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:38:27.549076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRX5 as ready",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:38:27.539445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Green List (High Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:38:15.257988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLRX5 were changed from to Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:36:59.114586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:36:12.472264+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:36:12.468252+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Mild polymicrogyria described in SMA, 2B.",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:36:12.435100+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:36:07.689429+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:35:45.552643+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BICD2 were set to ",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T18:35:17.946821+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T17:44:41.130104+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 18536048; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency MIM#264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-03-06T17:20:33.515974+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-06T17:20:33.502970+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aaas has been classified as Amber List (Moderate Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-06T17:20:27.935894+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AAAS as Amber List (moderate evidence)",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-06T17:20:27.927406+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aaas has been classified as Amber List (Moderate Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-06T17:18:17.755098+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AAAS was added\ngene: AAAS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AAAS were set to 30381913\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550; complicated hereditary spastic paraplegia\nReview for gene: AAAS was set to AMBER\nAdded comment: Two families reported with complicated HSP. \nSources: Expert list",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-03-06T16:53:07.195927+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JAM2: Changed rating: GREEN",
"entity_name": "JAM2",
"entity_type": "gene"
},
{
"created": "2020-03-06T16:19:43.619023+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR2 as ready",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-03-06T16:19:43.610341+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Green List (High Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-03-06T16:19:34.371271+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 1 604772",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-03-06T16:19:02.985377+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-03-06T16:11:22.924263+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.3",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:42:02.230523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP188: Changed rating: AMBER",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:41:53.751199+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestin et al 2019, plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.; to: Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestig et al 2019 (died in early infancy), plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:40:47.702566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP188: Changed publications: 32021605, 28726809",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:33:35.610186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT2 as ready",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:33:35.601798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:33:26.049620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Amber List (moderate evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:33:26.036915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:33:00.864373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUDT2 was added\ngene: NUDT2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDT2 were set to 27431290; 30059600\nPhenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability\nReview for gene: NUDT2 was set to AMBER\nAdded comment: 7 affected individuals from 4 Saudi families, with same homozygous truncating variant. \nSources: Expert list",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:31:35.520686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT2 as ready",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:31:35.507869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:31:02.096503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Amber List (moderate evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:31:02.087649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:30:26.962047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUDT2 was added\ngene: NUDT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDT2 were set to 27431290; 30059600\nPhenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability\nReview for gene: NUDT2 was set to AMBER\nAdded comment: 7 affected individuals from 4 Saudi families, with same homozygous truncating variant. \nSources: Expert list",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-03-06T15:01:25.000946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2020-03-06T14:40:22.020985+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.3",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 31454269; 4 families including 1 consanguineous family. Functional studies indicate reduced calcium binding for Glu141Lys and Glu141Val; to: PMID: 31454269; 4 families including 1 consanguineous family with LQTS. Functional studies indicate reduced calcium binding for Glu141Lys and Glu141Val\r\n\r\n",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2020-03-06T14:39:33.844448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24599119; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791, Pendred syndrome 274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2020-03-06T14:38:42.372332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426734, 27426733; Phenotypes: Cardiospondylocarpofacial syndrome 157800 AD, Frontometaphyseal dysplasia 2 617137 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2020-03-06T14:35:04.840167+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.3",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31454269; Phenotypes: Long QT syndrome 16 (MIM# 618782); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2020-03-06T14:05:22.852784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24348268; Phenotypes: Mental retardation, autosomal recessive 15; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2020-03-06T13:39:25.998762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2020-03-06T13:37:52.079652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 3, pyridoxine-refractory, Spasticity, childhood-onset, with hyperglycinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-03-06T13:28:13.846093+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.30",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635954, 32057122; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A. MIM: 615290, Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:40:41.707390+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:25:58.035272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKAP as ready",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:25:58.018539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkap has been classified as Green List (High Evidence).",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:25:43.063113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKAP as Green List (high evidence)",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:25:43.050183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkap has been classified as Green List (High Evidence).",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:25:16.872137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKAP was added\ngene: NKAP was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NKAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKAP were set to 26358559; 26350204; 31587868\nPhenotypes for gene: NKAP were set to Intellectual disability\nReview for gene: NKAP was set to GREEN\ngene: NKAP was marked as current diagnostic\nAdded comment: 10 males from 8 unrelated families with missense mutations in NKAP (on Xq24) Hypotonia and tall stature with Marfanoid habitus was predominant phenotype. One variant (NM_024528:c.988G>A / p.Arg333Gln) \nSources: Expert list",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:23:44.245719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKAP as ready",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:23:44.236387+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkap has been classified as Green List (High Evidence).",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:23:25.054265+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKAP as Green List (high evidence)",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:23:25.013900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkap has been classified as Green List (High Evidence).",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:22:47.010915+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKAP was added\ngene: NKAP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: NKAP were set to 26358559; 26350204; 31587868\nPhenotypes for gene: NKAP were set to Intellectual disability\nReview for gene: NKAP was set to GREEN\ngene: NKAP was marked as current diagnostic\nAdded comment: 10 males from 8 unrelated families with missense variants in NKAP. Main features: intellectual disability, hypotonia, tall stature with Marfanoid habitus. Recurrent variant (NM_024528:c.988G>A / p.Arg333Gln) seen in several families from different ethnic backgrounds. \nSources: Expert list",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:12:39.562345+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHP2 as ready",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:12:39.549241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:12:30.750839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:12:01.665935+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:11:35.431184+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:11:04.382137+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHP2 as Amber List (moderate evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:11:04.373931+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T10:10:21.447333+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987, Høyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:59:41.233235+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:59:41.224669+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Red List (Low Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:59:10.487631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:58:37.320871+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:58:09.521246+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:57:37.907441+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHEJ1 as Red List (low evidence)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:57:37.898155+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Red List (Low Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-06T09:57:04.234785+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:28:23.694284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NGF as ready",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:28:23.680263+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngf has been classified as Red List (Low Evidence).",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:28:17.839921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGF were changed from to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:27:50.919311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:27:20.241914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NGF as Red List (low evidence)",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:27:20.233019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngf has been classified as Red List (Low Evidence).",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T19:26:30.348285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NGF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:07:34.644346+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFV2 as Amber List (moderate evidence)",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:07:34.631791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:07:01.722965+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:06:22.898637+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFV2: Changed rating: AMBER",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:05:01.258733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS6 as Amber List (moderate evidence)",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:05:01.247282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:04:28.422600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected families, functional data.; to: Multiple affected families, functional data. Limited clinical information in some reports. In some families, the presentation has been with severe neonatal lactic acidosis, therefore difficult to be sure in what proportion ID is likely to be the presenting or main feature.",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:03:30.935444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFS6: Changed rating: AMBER",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:01:15.700401+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS3 as Amber List (moderate evidence)",
"entity_name": "NDUFS3",
"entity_type": "gene"
}
]
}