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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1481",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1479",
"results": [
{
"created": "2020-12-10T16:05:39.315892+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:02:38.041475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIL1 as ready",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:02:38.030616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:02:31.700393+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:02:31.689621+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:02:00.599236+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:00:22.164189+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIL1 as ready",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:00:22.152913+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:00:18.476954+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:00:18.466322+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:57:15.624122+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:55:20.333931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIL1 as ready",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:55:20.323335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:55:11.466666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:55:11.455359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:54:53.621204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:54:35.268307+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIL1 as ready",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:54:35.259326+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:54:11.301498+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:54:11.290540+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T15:53:09.431903+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIL1 was added\ngene: PPIL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIL1 were set to 33220177\nPhenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: PPIL1 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:09:36.689515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5606",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FRA12A as Amber List (moderate evidence)",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:09:36.678966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5606",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fra12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:08:56.741178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5605",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FRA12A was added\nSTR: FRA12A was added to Mendeliome. Sources: Other\n5'UTR tags were added to STR: FRA12A.\nMode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FRA12A were set to 17236128\nPhenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630\nReview for STR: FRA12A was set to AMBER\nAdded comment: NM_173602.2:c.-137CGG[X]\r\nAll individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.\r\n70 controls used to determine the \"normal\" repeat range. \nSources: Other",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:06:13.104615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5604",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIP2B as No list",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:06:13.101039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5604",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:06:13.081323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5604",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dip2b has been removed from the panel.",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:06:02.541343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5603",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIP2B as No list",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:06:02.537304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5603",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:06:02.495927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5603",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dip2b has been removed from the panel.",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:04:49.424065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIP2B as No list",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:04:49.419408+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:04:49.383613+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dip2b has been removed from the panel.",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2020-12-10T14:02:50.053724+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FRA12A as ready",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:02:50.046239+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fra12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:02:10.236325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FRA12A as Amber List (moderate evidence)",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:02:10.225829+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fra12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T14:01:29.645764+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FRA12A was added\nSTR: FRA12A was added to Intellectual disability syndromic and non-syndromic. Sources: Other\n5'UTR tags were added to STR: FRA12A.\nMode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FRA12A were set to 17236128\nPhenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630\nReview for STR: FRA12A was set to AMBER\nAdded comment: NM_173602.2:c.-137CGG[X]\r\nAll individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.\r\n70 controls used to determine the \"normal\" repeat range. \nSources: Other",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2020-12-10T13:10:32.696014+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-12-10T13:10:00.660634+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PTPRQ: Further heterozygous variants reported in PMID 33229591.",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-12-10T13:09:34.905002+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPRQ: Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-12-10T13:09:15.145202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-12-10T13:08:53.495611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Additional heterozygous variants reported in PMID: 33229591; to: Additional heterozygous variants reported in PMID: 33229591, Green for both MOIs.",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-12-10T13:08:37.863012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPRQ: Added comment: Additional heterozygous variants reported in PMID: 33229591; Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2020-12-10T11:47:54.923400+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: CANVAS_ACAGG as ready",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:47:54.912775+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas_acagg has been classified as Amber List (Moderate Evidence).",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:47:51.319459+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:47:51.314210+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:47:51.295084+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas_acagg has been classified as Amber List (Moderate Evidence).",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:47:35.657412+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CANVAS_ACAGG was added\nSTR: CANVAS_ACAGG was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS_ACAGG were set to 33103729\nPhenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation\nReview for STR: CANVAS_ACAGG was set to AMBER\nAdded comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \nSources: Literature",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:46:31.567766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \nSources: Literature; to: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \r\nSources: Literature",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:44:10.742770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: CANVAS_ACAGG as ready",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:44:10.729636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas_acagg has been classified as Amber List (Moderate Evidence).",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:43:56.256870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:43:56.252070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:43:56.228589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas_acagg has been classified as Amber List (Moderate Evidence).",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:43:21.982307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5600",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CANVAS_ACAGG was added\nSTR: CANVAS_ACAGG was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS_ACAGG were set to 33103729\nPhenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation\nReview for STR: CANVAS_ACAGG was set to AMBER\nAdded comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats. \nSources: Literature",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2020-12-10T11:41:11.697396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5599",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: CANVAS as ready",
"entity_name": "CANVAS",
"entity_type": "str"
},
{
"created": "2020-12-10T11:41:11.683156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5599",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas has been classified as Green List (High Evidence).",
"entity_name": "CANVAS",
"entity_type": "str"
},
{
"created": "2020-12-10T11:40:20.729768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5599",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: CANVAS as Green List (high evidence)",
"entity_name": "CANVAS",
"entity_type": "str"
},
{
"created": "2020-12-10T11:40:20.717816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5599",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas has been classified as Green List (High Evidence).",
"entity_name": "CANVAS",
"entity_type": "str"
},
{
"created": "2020-12-10T11:39:53.383065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5598",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CANVAS was added\nSTR: CANVAS was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CANVAS were set to 30926972; 32851396\nPhenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575\nReview for STR: CANVAS was set to GREEN\nSTR: CANVAS was marked as clinically relevant\nAdded comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic. \nSources: Expert list",
"entity_name": "CANVAS",
"entity_type": "str"
},
{
"created": "2020-12-10T11:36:39.682491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5597",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RFC1 as No list",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-12-10T11:36:39.671656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5597",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rfc1 has been removed from the panel.",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-12-10T11:11:42.854421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FRAXE as Green List (high evidence)",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2020-12-10T11:11:42.846213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fraxe has been classified as Green List (High Evidence).",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2020-12-10T11:10:26.805814+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FRAXE was added\nSTR: FRAXE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: FRAXE were set to 8334699; 8673085; 11388762\nPhenotypes for STR: FRAXE were set to Fragile X syndrome, FRAXE type (OMIM 309548)\nReview for STR: FRAXE was set to GREEN\nSTR: FRAXE was marked as clinically relevant\nSTR: FRAXE was marked as current diagnostic\nAdded comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25)\r\nLoss of function through methylation silencing is the mechanism of disease\r\nNormal - 5-44 repeats\r\nInconclusive - 45-54 repeats\r\nPremutation - 55-200 repeats\r\nAbnormal - >200 or >230 repeats \nSources: Expert list",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2020-12-10T10:20:52.259951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF11 were changed from Cleft lip and palate to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2020-12-10T10:20:28.872778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF11: Changed phenotypes: Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2020-12-09T21:32:31.151475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-09T21:32:31.136474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-09T21:32:24.503200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3 (MIM# 610329), AR",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-09T21:32:06.059774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNASEH2C were set to ",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-09T21:31:31.608355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:30:13.584565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP52 as ready",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:30:13.572256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap52 has been classified as Green List (High Evidence).",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:30:04.844033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP52 as Green List (high evidence)",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:30:04.835746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap52 has been classified as Green List (High Evidence).",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:29:05.212522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP45 as ready",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:29:05.196070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Green List (High Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:28:01.177698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP45 as Green List (high evidence)",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-09T19:28:01.166011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Green List (High Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-09T18:16:04.725785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5590",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:52:13.438632+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP85L as ready",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:52:13.428446+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:52:11.480659+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP85L as Green List (high evidence)",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:52:11.474446+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:49:42.901599+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP85L as Green List (high evidence)",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:49:42.894147+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:48:45.060028+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP85L was added\ngene: CEP85L was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: PMID: 32097630 (2020) - 13 individuals from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Seizures are part of the phenotype, present in all cases (except 1 unknown) which were intractable in most. Age of seizure onset was variable, ranging from 5 months to 14 years. Mouse model supports a role of CEP85L in neuronal migration. \nSources: Expert Review",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:37:02.009282+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MORC2 as ready",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:37:01.981110+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:36:57.519516+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MORC2 as Green List (high evidence)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:36:57.508833+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:36:26.905718+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688\nReview for gene: MORC2 was set to GREEN\nAdded comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL. \nSources: Expert list",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:33:23.234682+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MORC2 as ready",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:33:23.226575+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:33:18.220802+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MORC2 as Green List (high evidence)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:33:18.212945+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:32:49.906944+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688\nReview for gene: MORC2 was set to GREEN\nAdded comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL. \nSources: Expert list",
"entity_name": "MORC2",
"entity_type": "gene"
}
]
}