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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1257",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1255",
"results": [
{
"created": "2021-07-31T11:41:00.520836+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DES were set to Myopathy, myofibrillar, 1\t, MIM#601419\nReview for gene: DES was set to GREEN\nAdded comment: Well established gene-disease association. Primarily skeletal and cardiac involvement but gut involvement with constipation/diarrhoea reported. \nSources: Expert list",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:38:35.375404+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLMP as ready",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:38:35.350072+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clmp has been classified as Green List (High Evidence).",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:38:13.051176+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLMP as Green List (high evidence)",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:38:13.040615+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clmp has been classified as Green List (High Evidence).",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:38:04.102632+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLMP was added\ngene: CLMP was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLMP were set to 22155368\nPhenotypes for gene: CLMP were set to Congenital short bowel syndrome , MIM#615237\nReview for gene: CLMP was set to GREEN\nAdded comment: Well established gene-disease association, phenotypic overlap. \nSources: Expert list",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:33:47.340264+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-31T11:30:32.743619+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Hirschsprung disease; Arthrogryposis to Complex neurocristinopathy",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:30:07.507768+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERBB3 were set to 33720042",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:29:37.160554+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Complex neurocristinopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:25:58.465885+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Neurodevelopmental disorder with gut dysmotility to Complex neurocristinopathy",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:25:48.032452+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBB3: Changed phenotypes: Complex neurocristinopathy",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:25:34.262231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBB3: Changed phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598, Complex neurocristinopathy",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:24:56.163863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBB3: Changed phenotypes: Complex neurocristinopathy",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:24:37.007975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis; Neurodevelopmental disorder with gut dysmotility to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis; Complex neurocristinopathy",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:23:58.218977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 33497358: 6 individuals from 4 unrelated families reported with severe gut dysmotility and neurodevelopmental disorder. Note variants in this gene have also recently been linked to Hirschsprung's disease.; to: PMID 33497358: 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease.",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:23:26.605209+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 6 individuals from 4 unrelated families reported with severe gut dysmotility and neurodevelopmental disorder. Note variants in this gene have also recently been linked to Hirschsprung's disease. \nSources: Literature; to: 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease. \r\nSources: Literature",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:20:16.220816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis; Neurodevelopmental disorder with gut dysmotility",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:19:29.924685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:19:01.629259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures.; to: Lethal congenital contractual syndrome: Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures.",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:18:42.687909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBB3: Added comment: PMID 33497358: 6 individuals from 4 unrelated families reported with severe gut dysmotility and neurodevelopmental disorder. Note variants in this gene have also recently been linked to Hirschsprung's disease.; Changed rating: GREEN; Changed publications: 17701904, 31752936, 33497358; Changed phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598, Neurodevelopmental disorder with gut dysmotility",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:17:21.772860+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:17:21.763598+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Green List (High Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:16:49.209518+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB3 as Green List (high evidence)",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:16:49.199796+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Green List (High Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:16:40.865491+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERBB3 was added\ngene: ERBB3 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERBB3 were set to 33497358\nPhenotypes for gene: ERBB3 were set to Neurodevelopmental disorder with gut dysmotility\nReview for gene: ERBB3 was set to GREEN\nAdded comment: 6 individuals from 4 unrelated families reported with severe gut dysmotility and neurodevelopmental disorder. Note variants in this gene have also recently been linked to Hirschsprung's disease. \nSources: Literature",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:13:52.809224+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:13:52.798552+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:12:50.939068+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:12:50.929768+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:12:29.458255+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:12:18.298994+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:12:06.186005+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22006280; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:10:13.980471+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to 17357080; 23037936; 33464596",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:10:04.054601+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.\r\n\r\nAt least 4 families reported with predominantly intestinal phenotype with dysmotility and obstruction +/- short bowel.; to: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.\r\n\r\nAt least 6 families reported with predominantly intestinal phenotype with dysmotility and obstruction +/- short bowel.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:09:57.310500+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FLNA: Changed publications: 17357080, 23037936, 33464596, 20871226",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:08:54.435911+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNA as Green List (high evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:08:54.425630+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:07:56.063105+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FLNA were set to 30547349\nPhenotypes for gene: FLNA were set to Interstitial lung disease\nReview for gene: FLNA was set to GREEN\nAdded comment: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.\r\n\r\nPMID 30547349 reviews 18 individuals with significant interstitial lung disease +/- other cardiac/neurological features. \nSources: Literature",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:05:02.413060+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:05:02.388328+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:04:59.843363+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from Periventricular heterotopia in males, seizures in females to Intestinal pseudoobstruction, neuronal, MIM# 300048; Congenital short bowel syndrome, MIM# 300048",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:04:48.720952+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T11:04:38.218966+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357080, 23037936, 33464596; Phenotypes: Intestinal pseudoobstruction, neuronal, MIM# 300048, Congenital short bowel syndrome, MIM# 300048; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-31T10:57:19.769898+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-07-31T10:57:19.759197+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-07-31T10:56:41.660438+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRB were changed from Waardenburg syndrome w/pigmentary abnormalities to Waardenburg syndrome, type 4A, MIM# 277580",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-07-31T10:56:26.612319+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:40:43.757294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCL3 as ready",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:40:43.740450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:40:34.616018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCL3 as Amber List (moderate evidence)",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:40:34.606401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:40:15.169878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDCL3 was added\ngene: PDCL3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: PDCL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCL3 were set to 32621347\nPhenotypes for gene: PDCL3 were set to Megacystis-microcolon\nReview for gene: PDCL3 was set to AMBER\nAdded comment: Single publication (PMID 32621347): one family with two affected fetuses - one with megacystis and microcolon, and the other with megacystisis and bilateral diaphragmatic hernia (prune-belly phenotype). Compound het LOF variants in PDCL3 (one frameshift and one missense). Complete absence of PDLC3 expression demonstrated in one of the affected fetuses. No homozygous LOF PDCL3 variants in gnomAD. PCDL3 negatively modulates actin folding and is strongly expressed in smooth muscle of bladder and colon. \nSources: Expert Review",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:38:40.586651+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCL3 as ready",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:38:40.576225+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:38:36.278654+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCL3 as Amber List (moderate evidence)",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:38:36.268717+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDCL3",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:35:56.049087+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RET as ready",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:35:56.035033+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:35:53.574229+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623 to Central hypoventilation syndrome, congenital, MIM# 209880; Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:35:33.906453+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RET was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:35:24.557353+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:30:52.744809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGO1 as ready",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:30:52.734369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:30:44.513532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGO1 were changed from to Chronic atrial and intestinal dysrhythmia, MIM# 616201",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:30:26.490314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGO1 were set to ",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:30:09.531685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:29:49.358586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGO1 as Amber List (moderate evidence)",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:29:49.348590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:29:32.461804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:28:52.105132+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:52.996533+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGO1 as ready",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:52.987220+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:50.954838+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGO1 were changed from Chronic atrial and intestinal dysrhythmia, 616201 to Chronic atrial and intestinal dysrhythmia, MIM# 616201",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:40.788763+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGO1 were set to ",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:33.564361+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGO1 as Amber List (moderate evidence)",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:33.554651+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:27.690662+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SGO1.",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:27:20.728362+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single homozygous missense identified in 3 families, founder effect demonstrated by haplotype analysis. Functional data supports gene-disease association.; to: Single homozygous missense identified in 15 individuals, founder effect demonstrated by haplotype analysis. Functional data supports gene-disease association.",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:25:37.988344+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:21:22.466926+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX10 as ready",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:21:22.456628+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox10 has been classified as Green List (High Evidence).",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:21:19.122947+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:21:12.246841+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX10 were changed from Waardenburg syndrome w/pigmentary abnormalities to PCWH syndrome, MIM# 609136",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:20:58.447219+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX10 were set to ",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:20:23.391974+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10762540, 10482261, 15004559; Phenotypes: PCWH syndrome, MIM# 609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:17:08.939591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMP as ready",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:17:08.929733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tymp has been classified as Green List (High Evidence).",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:16:57.540838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:16:39.238017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYMP were set to ",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:16:22.086885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:16:02.260544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041, MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:13:39.789253+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMP as ready",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:13:39.778799+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tymp has been classified as Green List (High Evidence).",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:13:36.322245+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYMP were changed from MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:13:22.320273+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYMP were set to ",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-30T18:13:10.043476+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:36:46.653359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF687 as ready",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:36:46.640901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf687 has been classified as Green List (High Evidence).",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:36:38.423204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF687 were changed from to Paget disease of bone 6, MIM#616833",
"entity_name": "ZNF687",
"entity_type": "gene"
}
]
}