HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1297",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1295",
"results": [
{
"created": "2021-06-15T11:06:20.385926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf81 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:06:11.845464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF81 were changed from to Intellectual disability",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:05:51.319433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF81 were set to ",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:05:32.647198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF81 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:05:15.555889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF81 as Red List (low evidence)",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:05:15.545435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf81 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:04:59.270634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 15121780; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:04:15.149298+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF81 as ready",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:04:15.139058+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf81 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:04:10.162547+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZNF81.",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:03:35.272326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF81 were changed from to Intellectual disability",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:01:46.083724+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF81 were set to ",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:01:17.935539+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF81 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:00:52.809431+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF81 as Red List (low evidence)",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:00:52.800303+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf81 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:00:21.047633+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 15121780; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2021-06-15T10:29:22.650859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7986",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "edited their review of gene: RELN: Added comment: - Six affected individuals carrying missense variants in RELN including\r\n1. Two individuals with compound heterozygous variants \r\n - One of the variants has 26 homozygotes in gnomAD and therefore pathogenicity of this variant is in question\r\n - LoF demonstrated for three of the variants (reduced RELN secretion), except for p.Y1821H which demonstrated an apparently increased RELN secretion (GoF)\r\n2. Two brothers carrying the maternally inherited variant (mother apparently healthy)\r\n - LoF demonstrated for these variants\r\n3. Two individuals de novo for RELN variants\r\n - Dominant negative demonstrated for these variants where secretion of WT-RELN was impaired when co-transfected with mutant constructs in HEK293T cells; Changed rating: AMBER; Changed publications: Riva et al bioRxiv (pre-print, not peer-reviewed); Changed phenotypes: Pachygyria, Polymicrogyria, Heterotopia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-15T09:55:16.773193+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:55:16.763881+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:55:03.747331+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:55:03.736271+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:54:52.311802+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:54:52.301339+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:54:20.282069+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:54:20.271447+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:53:25.686110+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:53:25.672641+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:53:20.676046+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:53:20.662148+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:53:09.860809+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:53:09.801203+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:52:00.575293+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:52:00.564029+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:51:33.832766+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:51:33.822337+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:50:50.505003+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: NIID: Changed rating: GREEN",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:50:35.801150+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:50:29.245323+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:50:18.885275+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:50:07.022300+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:40:35.149201+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:40:35.136299+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:39:00.747957+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:39:00.739185+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:38:21.954143+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Regression. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[(66_517)] \r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:28:24.705404+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOTCH2NL as No list",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2021-06-15T09:28:24.699953+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: STR is the only reported cause of disease in this gene. It has been added as an STR under NIID.",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2021-06-15T09:28:24.666310+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: notch2nl has been removed from the panel.",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2021-06-15T09:21:47.613068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7986",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:21:47.598373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7986",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:19:46.646587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7986",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:19:46.636892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7986",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T09:19:04.808199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7985",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease\tMIM#603472; Tremor, hereditary essential, 6\tMIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[(66_517)]\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 7-60\r\nPathogenic repeat range: >=61-500\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-06-15T08:32:55.154117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7984",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOTCH2NL as No list",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2021-06-15T08:32:55.149413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7984",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: STR is the only reported cause of disease for this gene. It has been added as an STR under NIID.",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2021-06-15T08:32:55.111703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7984",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: notch2nl has been removed from the panel.",
"entity_name": "NOTCH2NL",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:30:35.757639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM6 as ready",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:30:35.745279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm6 has been classified as Green List (High Evidence).",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:30:28.509354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM6 were changed from to Hypomagnesaemia 1, intestinal (MIM#602014)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:29:54.864909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPM6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:25:44.096487+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"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": "2021-06-14T18:25:12.445746+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:25:12.435682+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Red List (Low Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:25:06.326631+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNM2: Changed rating: RED; Changed phenotypes: Lethal congenital contracture syndrome 5, MIM# 615368",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:24:59.324492+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: DNM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNM2 were set to 23092955\nPhenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, MIM#\t615368\nReview for gene: DNM2 was set to AMBER\nAdded comment: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease. \nSources: Expert Review",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:17:13.296225+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIP5K1C as ready",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:17:13.286898+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:17:08.558270+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Amber List (moderate evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:17:08.549017+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:16:39.895752+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIP5K1C were set to 17701898\nPhenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, MIM# 611369\nReview for gene: PIP5K1C was set to AMBER\nAdded comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber. \nSources: Expert Review",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:14:30.346556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP1 as ready",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:14:30.335599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:14:22.001932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:14:01.325508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP1 were set to ",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:13:40.730421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:13:19.455434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:12:09.718498+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP1 as ready",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:12:09.706137+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:11:55.978235+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTNAP1 as Green List (high evidence)",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:11:55.969539+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T18:11:24.863273+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTNAP1 was added\ngene: CNTNAP1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTNAP1 were set to 24319099; 28254648\nPhenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, MIM#\t616286; MONDO:0014569\nReview for gene: CNTNAP1 was set to GREEN\nAdded comment: At least 5 unrelated families reported. \nSources: Expert Review",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:57:31.182025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDN as ready",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:57:31.172325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Green List (High Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:57:24.355490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDN were changed from to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:57:08.606268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLDN were set to ",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:56:49.786258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:56:33.414930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194, MONDO:0014965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:56:02.702044+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDN as ready",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:56:02.689201+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Green List (High Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:56:00.606452+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDN were changed from to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:55:43.023077+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLDN were set to ",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:55:14.907259+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:54:50.269757+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDN as ready",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:54:50.259470+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Green List (High Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:54:44.440873+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194, MONDO:0014965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:54:15.617141+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, MIM#\t617194 to Lethal congenital contracture syndrome 11, MIM#\t617194; MONDO:0014965",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:53:46.679940+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLDN as Green List (high evidence)",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:53:46.670065+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Green List (High Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:53:24.164565+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDN was added\ngene: GLDN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLDN were set to 27616481; 32812332; 28726266\nPhenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM#\t617194\nReview for gene: GLDN was set to GREEN\nAdded comment: Ten unrelated families reported. \nSources: Expert Review",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:50:31.632887+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB42 as ready",
"entity_name": "ZBTB42",
"entity_type": "gene"
}
]
}