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{
"count": 221277,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1932",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1930",
"results": [
{
"created": "2020-02-10T16:31:33.713682+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigh has been classified as Green List (High Evidence).",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-02-10T16:30:52.675068+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGH: Changed rating: GREEN",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-02-10T16:28:29.317834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGH was added\ngene: PIGH was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGH were set to 29573052; 29603510\nPhenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010\nReview for gene: PIGH was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2020-02-10T16:03:29.384504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:59:13.144592+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO2 as ready",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:59:13.138777+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:58:53.648039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:57:57.688249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO2 were set to 24726473",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:57:32.861043+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:57:07.673112+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO2 were set to ",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:56:38.263161+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:56:07.537231+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:55:37.230518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIEZO2 as Amber List (moderate evidence)",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:55:37.225070+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:54:47.570877+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24726473; Phenotypes: Marden-Walker syndrome, MIM# 248700, Arthrogryposis, distal, type 3, MIM# 114300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:49:00.436837+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIBF1 as ready",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:49:00.431617+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:48:55.164009+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIBF1 as Green List (high evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:48:55.159098+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:47:36.366836+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to 26167768; 30858804; 29695797\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767\nReview for gene: PIBF1 was set to GREEN\nAdded comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant. \nSources: Expert list",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:38:59.695324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHACTR1 as ready",
"entity_name": "PHACTR1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:38:59.689385+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phactr1 has been classified as Green List (High Evidence).",
"entity_name": "PHACTR1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:38:47.111318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHACTR1 were changed from Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder to Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder",
"entity_name": "PHACTR1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:38:12.978052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHACTR1 as Green List (high evidence)",
"entity_name": "PHACTR1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:38:12.959719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phactr1 has been classified as Green List (High Evidence).",
"entity_name": "PHACTR1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:37:31.467127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHACTR1 was added\ngene: PHACTR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHACTR1 were set to 30256902; 28135719; 23033978; 27457812\nPhenotypes for gene: PHACTR1 were set to Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder\nPenetrance for gene: PHACTR1 were set to Incomplete\nMode of pathogenicity for gene: PHACTR1 was set to Other\nReview for gene: PHACTR1 was set to GREEN\ngene: PHACTR1 was marked as current diagnostic\nAdded comment: 6 unrelated individuals reported altogether with variants in this gene. Several as part of large cohorts, so limited variant and patient characterisation. One variant reported by de Ligt et al is present in the population (4 individuals) suggesting reduced penetrance. However, functional data (including mouse model) for this and other variants exerting a dominant negative effect. \nSources: Expert list",
"entity_name": "PHACTR1",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:23:30.393982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PET100 as ready",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:23:30.388810+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pet100 has been classified as Green List (High Evidence).",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:21:31.540019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, MIM# 220110",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:20:52.981428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, MIM# 220110",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:20:18.164869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PET100 were set to ",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:19:41.639402+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T15:04:56.241102+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.79",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-02-10T14:44:48.130232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:58:19.544583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:57:42.088374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:56:56.837079+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDHB: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:49:32.070455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH10 as ready",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:49:32.063407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh10 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:49:21.782686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH10 were changed from to Autism",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:49:05.281906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH10 were set to ",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:48:41.147238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:48:21.932820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH10 as Red List (low evidence)",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:48:21.927937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh10 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:48:03.398442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:46:26.681312+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH10 as ready",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:46:26.675814+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh10 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:46:05.594190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH10 were changed from Autism to Autism",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:45:26.735052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH10 were changed from to Autism",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:44:51.510013+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH10 were set to ",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:44:17.470857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:43:44.033770+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH10 as Red List (low evidence)",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:43:44.028511+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh10 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T13:43:04.802449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCDH10",
"entity_type": "gene"
},
{
"created": "2020-02-10T10:50:16.007891+11:00",
"panel_name": "Myopathy Superpanel",
"panel_id": 3101,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Myopathy Superpanel\nSet child panels to: Myopathy - congenital; Myopathy - adult onset\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-10T10:35:34.279512+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.32",
"user_name": "Sebastian Lunke",
"item_type": "panel",
"text": "Panel name changed from Haematuria/Alport to Haematuria_Alport",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-10T10:35:34.242197+11:00",
"panel_name": "Haematuria_Alport",
"panel_id": 39,
"panel_version": "0.32",
"user_name": "Sebastian Lunke",
"item_type": "panel",
"text": "Panel name changed from Haematuria/Alport to Haematuria_Alport",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-09T21:37:08.822252+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX7 as ready",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:37:08.817026+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Red List (Low Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:36:54.821671+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:36:12.767059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:35:38.521238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX7 as Red List (low evidence)",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:35:38.516116+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Red List (Low Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:34:57.723900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, progressive, with scoliosis, MIM# 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:21:29.980642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSGEP as ready",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:21:29.975273+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:21:17.077299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSGEP as Green List (high evidence)",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:21:17.059789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-02-09T21:20:10.660330+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSGEP was added\ngene: OSGEP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSGEP were set to 28805828; 28272532\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#\t617729\nReview for gene: OSGEP was set to GREEN\ngene: OSGEP was marked as current diagnostic\nAdded comment: 25 families reported. \nSources: Expert list",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:16:16.792455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:16:16.787524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Red List (Low Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:15:59.231402+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:15:15.838644+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:14:49.334728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORC1 as Red List (low evidence)",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:14:49.328897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Red List (Low Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:14:09.327647+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:07:49.764532+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LYST: Changed rating: AMBER",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:07:28.647195+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.; to: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true ID including in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:06:58.301187+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYST as Amber List (moderate evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:06:58.296162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-02-09T20:06:16.339168+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: LYST: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:09:40.013352+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP5 were changed from Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636 to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:09:28.087055+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:09:28.080684+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Red List (Low Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:09:14.680918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:08:48.826266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:08:20.164615+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:07:50.690980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRP5 as Red List (low evidence)",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:07:50.685699+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Red List (Low Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T19:06:57.362164+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813, Hyperostosis, endosteal, MIM# 144750, Osteopetrosis, autosomal dominant 1, MIM# 607634, Osteoporosis-pseudoglioma syndrome, MIM# 259770, Osteosclerosis, MIM# 144750, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875, van Buchem disease, type 2 607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:22:09.768759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LNPK as ready",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:22:09.763915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:21:56.949783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:21:46.195269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LNPK as ready",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:21:46.190451+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:21:40.103860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:20:52.494864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:20:20.865263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LNPK were set to ",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:20:04.242778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2020-02-09T18:19:45.561218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LNPK as Amber List (moderate evidence)",
"entity_name": "LNPK",
"entity_type": "gene"
}
]
}