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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1743",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1741",
"results": [
{
"created": "2020-07-06T16:03:06.730934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1GDS1 as ready",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T16:03:06.720927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1gds1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T16:02:56.882851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1GDS1 as Amber List (moderate evidence)",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T16:02:56.869497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1gds1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:57:20.312445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: BTG4: Changed rating: GREEN",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:57:04.086808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BTG4 was added\ngene: BTG4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BTG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BTG4 were set to PMID: 32502391\nPhenotypes for gene: BTG4 were set to Zygotic cleavage failure (ZCF)\nPenetrance for gene: BTG4 were set to unknown\nAdded comment: PMID: 32502391\r\n- 4 affecteds from 4 families including 3 consanguineous families. 3 PTVs + 1 splice.\r\n- in vitro assays in HELA cells showed all PTVs had complete loss of protein. The missense variant had abolished interaction with CNOT7\r\n- In vivo studies further demonstrated that the process of maternal mRNA decay was disrupted in the zygotes of the affected individuals, which provides a mechanistic explanation for the phenotype of ZCF \nSources: Literature",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:55:57.269169+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.110",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: STUB1 was added\ngene: STUB1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: STUB1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: STUB1 were set to PMID: 32342324; 32337344\nPhenotypes for gene: STUB1 were set to ?Spinocerebellar ataxia 48\t618093; Spinocerebellar ataxia, autosomal recessive 16\t615768\nReview for gene: STUB1 was set to GREEN\nAdded comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic–\r\nclonic seizures (4/31), peripheral nervous system involvement (4/12).\r\n\r\nPMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline \nSources: Expert list",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:54:04.733164+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2736",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation; ectodermal dysplasia; constipation; intestinal malrotation; multiple congenital anomalies",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:52:16.012091+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2735",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC12A2 as Green List (high evidence)",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:52:16.005861+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2735",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two independent families and mouse model",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:52:15.976106+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2735",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc12a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:51:17.367232+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2734",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:45:14.293237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1217 as ready",
"entity_name": "KIAA1217",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:45:14.283776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1217 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIAA1217",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:45:03.715551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA1217 as Amber List (moderate evidence)",
"entity_name": "KIAA1217",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:45:03.703570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1217 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIAA1217",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:44:45.675591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA1217 was added\ngene: KIAA1217 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIAA1217 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIAA1217 were set to 32369272\nPhenotypes for gene: KIAA1217 were set to Vertebral anomalies, syndromic and non-syndromic\nReview for gene: KIAA1217 was set to AMBER\nAdded comment: 10 families reported, however note only 3 of the variants were absent from gnomad, inheritance not reported, most variants are missense. \nSources: Literature",
"entity_name": "KIAA1217",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:41:31.905692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3239",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32473092; Phenotypes: female infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:40:06.904867+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:32:45.342566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3239",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: LGR4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32493844; Phenotypes: {Bone mineral density, low, susceptibility to} 615311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LGR4",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:30:54.181149+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TRIP13 was added\ngene: TRIP13 was added to Amenorrhoea. Sources: Literature\nMode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP13 were set to PMID: 32473092\nPhenotypes for gene: TRIP13 were set to female infertility\nPenetrance for gene: TRIP13 were set to unknown\nReview for gene: TRIP13 was set to GREEN\nAdded comment: PMID: 32473092; \r\n- 5 patients from 4 families (including 1 consanguineous) diagnosed with primary infertility with normal menstrual cycles.\r\n- all missense variants \nSources: Literature",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:29:44.001130+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: 32389901, 23643382; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia (MIM# 615267); Mode of inheritance: Unknown",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:23:26.110425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAP1GDS1 was added\ngene: RAP1GDS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAP1GDS1 were set to 32431071\nPhenotypes for gene: RAP1GDS1 were set to Intellectual disability; dysmorphic features\nReview for gene: RAP1GDS1 was set to AMBER\nAdded comment: Four individuals from two consanguineous families, same homozygous splice site variant detected. \nSources: Literature",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:23:06.834548+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1GDS1 as ready",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:23:06.825519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1gds1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:22:58.829940+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1GDS1 as Amber List (moderate evidence)",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:22:58.820162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1gds1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:21:58.397143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAP1GDS1 was added\ngene: RAP1GDS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAP1GDS1 were set to 32431071\nPhenotypes for gene: RAP1GDS1 were set to Intellectual disability; dysmorphic features\nReview for gene: RAP1GDS1 was set to AMBER\nAdded comment: Four individuals from two consanguineous families, same homozygous splice site variant detected. \nSources: Literature",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2020-07-06T15:07:35.944259+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.19",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:57:31.689915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:57:12.422796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXD10 as ready",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:57:12.409008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd10 has been classified as Red List (Low Evidence).",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:56:48.025727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXD10 were changed from to Charcot-Marie-Tooth disease, foot deformity of; Vertical talus, congenital (MIM#192950)",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:56:14.024126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXD10 were set to ",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:55:57.014192+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:55:57.003489+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:55:52.594842+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGPL1 as Amber List (moderate evidence)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:55:52.580777+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:55:15.141763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:54:14.609559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXD10 as Red List (low evidence)",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:54:14.595406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd10 has been classified as Red List (Low Evidence).",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:53:09.056111+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD3 as ready",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:53:09.047188+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Green List (High Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:53:05.024358+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD3 as Green List (high evidence)",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:53:05.012008+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Green List (High Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:52:34.588974+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD3 as ready",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:52:34.574743+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:52:28.805528+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD3 as Amber List (moderate evidence)",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:52:28.793552+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:52:02.250841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3234",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HOXD10: Rating: AMBER; Mode of pathogenicity: None; Publications: 15146389, 16450407; Phenotypes: Charcot-Marie-Tooth disease, foot deformity of, Vertical talus, congenital (MIM#192950); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HOXD10",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:51:41.704129+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADD3 was added\ngene: ADD3 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADD3 were set to 23836506; 29768408\nPhenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3\t617008\nReview for gene: ADD3 was set to GREEN\nAdded comment: Four families reported. \nSources: Expert Review",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:51:37.920607+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD3 as ready",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:51:37.915723+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Microcephaly is borderline.",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:51:37.877970+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:49:55.362358+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD3 as ready",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:49:55.339618+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:49:42.924950+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD3 as Amber List (moderate evidence)",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:49:42.914581+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:48:48.188926+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP2 as ready",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:48:48.178949+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:48:44.963397+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6AP2 as Green List (high evidence)",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:48:44.950375+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:48:05.831294+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ATP6AP2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-06T14:48:03.455583+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to Early-onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP6AP2 were set to 30985297; 23595882\nPhenotypes for gene: ATP6AP2 were set to Parkinsonism with spasticity, X-linked, MIM#\t300911\nReview for gene: ATP6AP2 was set to GREEN\nAdded comment: PMID: 30985297 - 1 de novo male patient with postnatal neurodegeneration, seizures, mild face dysmorphism. Sequential MRI revealed decreasing gray and white matter volumes. Patient has a splice variant proven to cause alternative transcript expression. Supported by null mouse model.\r\n\r\nPMID: 23595882 - 2 patients (1 family) with a synonymous variant proven to affect splicing. Patients have X-linked parkinsonian syndrome\r\n\r\nSummary: 2 unrelated patients + animal models \nSources: Expert list",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:44:45.881302+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1E as ready",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:44:45.866943+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:44:41.734689+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1E as Green List (high evidence)",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:44:41.725712+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:44:03.521656+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1E as ready",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:44:03.511088+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:42:47.792673+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1E as Green List (high evidence)",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:42:47.782802+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:42:09.815913+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1E as ready",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:42:09.804275+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:42:05.361422+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1E as Green List (high evidence)",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:42:05.351784+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1e has been classified as Green List (High Evidence).",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:41:10.134474+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:40:36.880007+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRX5 as ready",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:40:36.866903+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Green List (High Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:40:31.322543+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRX5 as Green List (high evidence)",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:40:31.310121+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Green List (High Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:40:09.997556+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRX5 as Amber List (moderate evidence)",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:40:09.985130+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:39:49.516425+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRX5 as ready",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:39:49.506549+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Green List (High Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:39:45.456499+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRX5 as Green List (high evidence)",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:39:45.442830+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Green List (High Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:38:48.762121+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:38:48.746926+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:38:46.021017+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADPRHL2 were changed from to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:38:21.670939+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADPRHL2 were set to ",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:37:50.479480+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADPRHL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:36:50.801187+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRN as ready",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:36:50.787929+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:36:44.517322+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRN as Green List (high evidence)",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:36:44.506805+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:35:30.136405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:35:30.121525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:35:23.066135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADPRHL2 were changed from to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:35:08.929019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADPRHL2 were set to ",
"entity_name": "ADPRHL2",
"entity_type": "gene"
}
]
}