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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1485",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1483",
"results": [
{
"created": "2020-12-07T15:59:43.713678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: 12 individuals reported, 11 de novo (1 not resolved), \"with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features\". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:43.639006+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: bicra has been removed from the panel.",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:19.052886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS2ST1 as ready",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:19.043948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:09.001988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:05.484978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: KDM4B was added\ngene: KDM4B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM4B were set to PMID: 33232677\nPhenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects\nReview for gene: KDM4B was set to GREEN\nAdded comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.\r\n\r\nAll individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.\r\n\r\nIn a knockout mouse the total brain volume was significantly reduced with decreased\r\nsize of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly. \nSources: Literature",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:04.332392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: BICRA as ready",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:04.326965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: 12 individuals reported, 11 de novo (1 not resolved), \"with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features\". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:04.294150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: bicra has been classified as Green List (High Evidence).",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:00.616809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: BICRA as Green List (high evidence)",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:59:00.608301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5563",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: bicra has been classified as Green List (High Evidence).",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:58:58.511873+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.947",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: KDM4B was added\ngene: KDM4B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM4B were set to PMID: 33232677\nPhenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects\nReview for gene: KDM4B was set to GREEN\nAdded comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.\r\n\r\nAll individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.\r\n\r\nIn a knockout mouse the total brain volume was significantly reduced with decreased\r\nsize of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly. \nSources: Literature",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:58:12.822822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HS2ST1 as Green List (high evidence)",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:58:12.811391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:57:29.024077+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPAMD8 were set to ",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:56:47.322032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM4B as ready",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:56:47.309619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm4b has been classified as Green List (High Evidence).",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:56:19.488625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM4B as Green List (high evidence)",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:56:19.480541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm4b has been classified as Green List (High Evidence).",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:55:16.545361+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:55:04.201092+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242396; Phenotypes: Neuorodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:53:51.520803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMG8 as Green List (high evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:53:51.512806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Green List (High Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:53:19.768435+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.130",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Region: ISCA-37433-Loss was added\nRegion: ISCA-37433-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400\nReview for Region: ISCA-37433-Loss was set to GREEN\nAdded comment: Established CNV \nSources: Expert list",
"entity_name": "ISCA-37433-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T15:52:13.916211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC45B as ready",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:52:13.905762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc45b has been classified as Green List (High Evidence).",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:52:09.046620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC45B as Green List (high evidence)",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:52:09.034495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc45b has been classified as Green List (High Evidence).",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:51:02.151581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BICRA was added\ngene: BICRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BICRA were set to 33232675\nPhenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features\nReview for gene: BICRA was set to GREEN\ngene: BICRA was marked as current diagnostic\nAdded comment: 12 individuals reported, 11 de novo (1 not resolved), \"with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features\". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association. \nSources: Literature",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:48:18.584747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5558",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: VPS4A was added\ngene: VPS4A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VPS4A were set to PMID: 33186543; 33186545\nPhenotypes for gene: VPS4A were set to Neurodevelopmental disorder\nReview for gene: VPS4A was set to GREEN\nAdded comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. \r\n1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).\r\nDemonstrated defective CD71 trafficking in all 3 patients. \r\n\r\nPMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). \r\nDemonstrated that the variants had a dominant-negative effect on VPS4A function.\r\n\"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life.\" \nSources: Literature",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:46:24.682580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGO2 as ready",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:46:24.673427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago2 has been classified as Green List (High Evidence).",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:46:08.332797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGO2 as Green List (high evidence)",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:46:08.324524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago2 has been classified as Green List (High Evidence).",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:58.769159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGO2 as Green List (high evidence)",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:58.759450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago2 has been classified as Green List (High Evidence).",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:45.155684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGO2 was added\ngene: AGO2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGO2 were set to 33199684\nPhenotypes for gene: AGO2 were set to Intellectual disability\nReview for gene: AGO2 was set to GREEN\nAdded comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID. \nSources: Literature",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:26.443294+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGO2 as Green List (high evidence)",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:26.435795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago2 has been classified as Green List (High Evidence).",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:23.846884+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGO2 as ready",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:45:23.838400+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago2 has been classified as Red List (Low Evidence).",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:44:25.220562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGO2 was added\ngene: AGO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGO2 were set to 33199684\nPhenotypes for gene: AGO2 were set to Intellectual disability\nReview for gene: AGO2 was set to GREEN\nAdded comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID. \nSources: Literature",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:39:45.793215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5556",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DAAM2 was added\ngene: DAAM2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS)\nPenetrance for gene: DAAM2 were set to unknown\nReview for gene: DAAM2 was set to GREEN\nAdded comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))\r\n- 4 unrelated families, 3 of which were consanguineous \r\n- 4 unique missense and 1 stop\r\n- in vitro studies done for the missense variants \nSources: Literature",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:39:14.330493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRP7A as ready",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:39:14.322519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrp7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:39:04.304158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRP7A as Amber List (moderate evidence)",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:39:04.296194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrp7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:38:47.225279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRP7A was added\ngene: RRP7A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP7A were set to 33199730\nPhenotypes for gene: RRP7A were set to Microcephaly\nReview for gene: RRP7A was set to AMBER\nAdded comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish. \nSources: Literature",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:38:26.837141+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRP7A as ready",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:38:26.825624+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrp7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:38:26.097123+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRP7A as Amber List (moderate evidence)",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:38:26.089773+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrp7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:37:50.019432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5554",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BICRA was added\ngene: BICRA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BICRA were set to 33232675\nPhenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features\nReview for gene: BICRA was set to GREEN\ngene: BICRA was marked as current diagnostic\nAdded comment: 12 individuals reported, 11 de novo (1 not resolved), \"with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features\". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association. \nSources: Literature",
"entity_name": "BICRA",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:37:37.732556+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRP7A was added\ngene: RRP7A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP7A were set to 33199730\nPhenotypes for gene: RRP7A were set to Microcephaly\nReview for gene: RRP7A was set to AMBER\nAdded comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish. \nSources: Literature",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:34:33.845821+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MINPP1 as ready",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:34:33.838234+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:34:29.669410+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MINPP1 as Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:34:29.659106+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:31:18.042614+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia\nReview for gene: MINPP1 was set to GREEN\nAdded comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI. \r\n\r\nSupportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions. \nSources: Literature",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:55.937590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HS2ST1 was added\ngene: HS2ST1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HS2ST1 were set to 33159882\nPenetrance for gene: HS2ST1 were set to unknown\nReview for gene: HS2ST1 was set to GREEN\nAdded comment: - 4 affected from 3 unrelated families\r\n- 3 unique missense and 2 PTCs\r\n- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities \nSources: Literature",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:55.041711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MINPP1 as ready",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:55.023081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:48.234177+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MINPP1 as ready",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:48.223234+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:43.389189+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MINPP1 as Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:43.378103+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:16.375638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MINPP1 as Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:16.356728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:29:08.165675+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia\nReview for gene: MINPP1 was set to GREEN\nAdded comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI. \r\n\r\nSupportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions. \nSources: Literature",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:28:27.167885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5553",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: KDM4B was added\ngene: KDM4B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM4B were set to PMID: 33232677\nPhenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects\nReview for gene: KDM4B was set to GREEN\nAdded comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B. \r\n\r\nAll individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.\r\n\r\nIn a knockout mouse the total brain volume was significantly reduced with decreased\r\nsize of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly. \nSources: Literature",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:27:57.071799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia\nReview for gene: MINPP1 was set to GREEN\nAdded comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI. \r\n\r\nSupportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions. \nSources: Literature",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:27:25.551798+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MINPP1 as Green List (high evidence)",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:27:25.541245+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: minpp1 has been classified as Green List (High Evidence).",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:26:45.239463+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MINPP1 was added\ngene: MINPP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MINPP1 were set to 33257696\nPhenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia\nReview for gene: MINPP1 was set to GREEN\nAdded comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.\r\n\r\nSupportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions. \nSources: Literature",
"entity_name": "MINPP1",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:26:08.445136+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.8",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32274568; Phenotypes: Anterior segment dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:26:06.596826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5552",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: UNC45B was added\ngene: UNC45B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC45B were set to 33217308\nPhenotypes for gene: UNC45B were set to Progressive Myopathy with Eccentric Cores\nReview for gene: UNC45B was set to GREEN\ngene: UNC45B was marked as current diagnostic\nAdded comment: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity. \nSources: Literature",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:22:01.391518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5552",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242396; Phenotypes: Neuorodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-12-07T15:19:58.918489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5552",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103729; Phenotypes: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-12-07T14:55:46.795655+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37478-Gain as ready",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:55:46.786085+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37478-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:55:43.271966+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37478-Gain as Green List (high evidence)",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:55:43.259072+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37478-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:55:33.696210+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37478-Gain was added\nRegion: ISCA-37478-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37478-Gain.\nMode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia\nReview for Region: ISCA-37478-Gain was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list",
"entity_name": "ISCA-37478-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:50:05.321283+11:00",
"panel_name": "Common deletion and duplication syndromes",
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"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed region:ISCA-37478-Gain from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-07T14:41:05.394548+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37434-Loss as ready",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:41:05.384562+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37434-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:41:02.831562+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37434-Loss were changed from Chromosome 1p36 deletion syndrome MIM#607872 to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:40:48.180680+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37434-Loss as Green List (high evidence)",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:40:48.170854+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37434-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:39:45.480462+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37433-Gain as ready",
"entity_name": "ISCA-37433-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:39:45.472257+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37433-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37433-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:39:41.156330+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37433-Gain as Green List (high evidence)",
"entity_name": "ISCA-37433-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:39:41.144135+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37433-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37433-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:38:18.613779+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37432-Loss as ready",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:38:18.605865+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37432-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:38:16.676962+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37432-Loss were changed from Chromosome 17q12 deletion syndrome\tMIM#614527 to Chromosome 17q12 deletion syndrome\tMIM#614527; Renal cysts and diabetes (RCAD) syndrome",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:38:00.425354+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37432-Loss as Green List (high evidence)",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:38:00.415196+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37432-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37432-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T14:36:24.009557+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37432-Gain as ready",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2020-12-07T14:36:23.999976+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37432-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
}
]
}