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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2001",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1999",
"results": [
{
"created": "2020-01-06T22:14:14.634363+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879 to Tatton-Brown-Rahman syndrome, OMIM# 615879",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:14:06.817568+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3A as ready",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:14:06.801433+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:13:47.007423+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:13:20.391667+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:12:53.239777+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3A were set to ",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:12:25.960052+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:11:48.732013+11:00",
"panel_name": "Overgrowth_VCGS",
"panel_id": 151,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:09:35.613842+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3A as ready",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:09:35.602682+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:09:26.273651+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:08:46.826440+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:08:25.583718+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:08:09.711239+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3A were set to ",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:07:38.816916+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DNMT3A was changed from to Other",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:07:20.208205+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:07:00.550842+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: Tatton-Brown-Rahman SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:04:48.765905+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:04:18.733386+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3A as ready",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:04:18.721820+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:04:12.528789+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from to Gatton-Brown-Rahman syndrome, MIM#615879; primordial dwarfism with intellectual disability and microcephaly",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:03:27.284234+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3A were set to ",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:03:06.864920+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T22:02:51.983228+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: TATTON-BROWN-RAHMAN SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T21:59:00.555677+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3A as ready",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T21:59:00.550596+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Three individuals reported, two with the same de novo missense variant. Postulated to be GOF as opposed to LOF variants in this gene which cause an overgrowth syndrome. Animal model supports pathogenicity.",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T21:59:00.509440+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T21:58:18.468126+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DNMT3A was changed from None to Other",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T21:57:37.253545+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNMT3A as Green List (high evidence)",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T21:57:37.240783+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T20:52:12.734099+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.3",
"user_name": "Sue White",
"item_type": "entity",
"text": "reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070, 30478443; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T20:43:43.348066+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.60",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT3A were set to 30478443\nPhenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature\nPenetrance for gene: DNMT3A were set to Complete\nReview for gene: DNMT3A was set to GREEN\ngene: DNMT3A was marked as current diagnostic\nAdded comment: gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability \nSources: Literature",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T20:43:17.323767+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.60",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNMT3A were set to 30478443\nPhenotypes for gene: DNMT3A were set to intellectual disability; microcephaly; short stature\nPenetrance for gene: DNMT3A were set to Complete\ngene: DNMT3A was marked as current diagnostic\nAdded comment: gain of function heterozygous variants cause an microcephaly-primordial short stature-type phenotype with intellectual disability \nSources: Literature",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:21:16.808833+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM28 as ready",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:21:16.796636+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim28 has been classified as Green List (High Evidence).",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:21:12.532923+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM28 as Green List (high evidence)",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:21:12.521707+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim28 has been classified as Green List (High Evidence).",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:20:33.703702+11:00",
"panel_name": "Incidentalome_VCGS",
"panel_id": 126,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM28 was added\ngene: TRIM28 was added to Incidentalome_VCGS. Sources: Literature\nMode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM28 were set to 30694527\nPhenotypes for gene: TRIM28 were set to Wilm's tumour\nReview for gene: TRIM28 was set to GREEN\nAdded comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development. \nSources: Literature",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:18:43.204695+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM28 as ready",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:18:43.191965+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim28 has been classified as Green List (High Evidence).",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:18:34.663020+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM28 as Green List (high evidence)",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:18:34.651783+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim28 has been classified as Green List (High Evidence).",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:18:15.566941+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM28 was added\ngene: TRIM28 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM28 were set to 30694527\nPhenotypes for gene: TRIM28 were set to Wilm's tumour\nReview for gene: TRIM28 was set to GREEN\nAdded comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development. \nSources: Literature",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:04:20.173208+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YY1AP1 as ready",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:04:20.160060+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yy1ap1 has been classified as Green List (High Evidence).",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:04:12.305152+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YY1AP1 were changed from to Grange syndrome, MIM# 602531; stenosis/occlusion of multiple arteries",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:03:56.122334+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YY1AP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-01-06T15:03:37.042802+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Grange syndrome, MIM# 602531, stenosis/occlusion of multiple arteries; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:56:04.814163+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBWD1 as ready",
"entity_name": "CBWD1",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:56:04.802386+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbwd1 has been classified as Red List (Low Evidence).",
"entity_name": "CBWD1",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:55:54.572421+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBWD1 was added\ngene: CBWD1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBWD1 were set to 31862704\nPhenotypes for gene: CBWD1 were set to CAKUT\nReview for gene: CBWD1 was set to RED\nAdded comment: A pair of siblings with homozygous deletion in this gene reported; functional data including animal model. \nSources: Literature",
"entity_name": "CBWD1",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:19:02.170663+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEF6 as ready",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:19:02.159777+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:31.774340+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEF6 as ready",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:31.759968+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:21.675165+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEF6 as Amber List (moderate evidence)",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:21.663581+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:03.626506+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEF6 as Amber List (moderate evidence)",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:03.612945+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:18:01.048833+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEF6 was added\ngene: DEF6 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DEF6 were set to 31308374\nPhenotypes for gene: DEF6 were set to Systemic autoimmunity\nReview for gene: DEF6 was set to AMBER\nAdded comment: Three individuals from two families, some functional data. \nSources: Literature",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:16:12.163632+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEF6 as Amber List (moderate evidence)",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:16:12.142842+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T14:15:26.680026+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEF6 was added\ngene: DEF6 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DEF6 were set to 31308374\nPhenotypes for gene: DEF6 were set to Systemic autoimmunity\nReview for gene: DEF6 was set to AMBER\nAdded comment: Three individuals from two unrelated families, some functional data. \nSources: Literature",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:38:08.682869+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A8 as ready",
"entity_name": "SLC2A8",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:38:08.677697+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.",
"entity_name": "SLC2A8",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:38:08.639191+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a8 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A8",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:37:56.279216+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC2A8 as Red List (low evidence)",
"entity_name": "SLC2A8",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:37:56.268416+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a8 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A8",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:31:48.562392+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:31:48.555708+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:31:48.512190+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Green List (High Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:31:43.481642+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:31:12.296934+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD5 were set to ",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:30:36.890371+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:29:46.452644+11:00",
"panel_name": "Hypertrichosis syndromes_VCGS",
"panel_id": 120,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:29:46.447605+11:00",
"panel_name": "Hypertrichosis syndromes_VCGS",
"panel_id": 120,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:29:46.405017+11:00",
"panel_name": "Hypertrichosis syndromes_VCGS",
"panel_id": 120,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Green List (High Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:29:41.737723+11:00",
"panel_name": "Hypertrichosis syndromes_VCGS",
"panel_id": 120,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:28:59.311362+11:00",
"panel_name": "Hypertrichosis syndromes_VCGS",
"panel_id": 120,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD5 were set to ",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:28:27.694672+11:00",
"panel_name": "Hypertrichosis syndromes_VCGS",
"panel_id": 120,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:27:34.669833+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:27:34.664662+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:27:34.624552+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Green List (High Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:27:21.367032+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:27:06.365412+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD5 were set to ",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:26:37.600722+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:26:04.599784+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:26:04.594606+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:26:04.548540+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Green List (High Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:26:00.134598+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:25:27.907236+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD5 were set to ",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:24:47.505754+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:23:17.687795+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:23:17.672162+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Green List (High Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:23:12.703217+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:22:53.255299+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD5 were set to ",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:22:38.030952+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T12:10:53.691803+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1507",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: None",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:37:37.203761+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VHL as ready",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:37:37.196804+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vhl has been classified as Green List (High Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
}
]
}