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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2002",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2000",
"results": [
{
"created": "2020-01-06T07:37:31.690576+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VHL as Green List (high evidence)",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:37:31.684450+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"
},
{
"created": "2020-01-06T07:37:21.159677+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VHL was added\ngene: VHL was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list\nMode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VHL were set to von Hippel-Lindau syndrome, MIM#\t193300\nReview for gene: VHL was set to GREEN\nAdded comment: Multiple renal cysts are part of the phenotype. \nSources: Expert list",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:34:06.541612+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG2 as ready",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:34:06.534985+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg2 has been classified as Green List (High Evidence).",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:33:55.392907+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG2 were changed from to Visceral myopathy, MIM#155310",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:33:39.318128+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:33:20.942895+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:32:46.631036+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG2 as ready",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:32:46.624925+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg2 has been classified as Green List (High Evidence).",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:32:35.166856+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG2 as Green List (high evidence)",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:32:35.157550+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg2 has been classified as Green List (High Evidence).",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-06T07:30:51.797428+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG2 was added\ngene: ACTG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG2 were set to Visceral myopathy, MIM#\t155310\nReview for gene: ACTG2 was set to GREEN\nAdded comment: Renal manifestations: megacystis, hydronephrosis. \nSources: Expert list",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:12:22.686961+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf70 as ready",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:12:22.680772+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf70 has been classified as Green List (High Evidence).",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:12:13.775276+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C19orf70 as Green List (high evidence)",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:12:13.768753+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf70 has been classified as Green List (High Evidence).",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:11:54.146472+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C19orf70 was added\ngene: C19orf70 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf70 were set to 29618761; 27623147; 27485409\nPhenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM#\t618329\nReview for gene: C19orf70 was set to GREEN\nAdded comment: Three unrelated families reported. HGNC approved name MICOS13. \nSources: Expert list",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:11:17.931500+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf70 as ready",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:11:17.923809+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf70 has been classified as Green List (High Evidence).",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:10:26.136547+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C19orf70 as Green List (high evidence)",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:10:26.124819+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf70 has been classified as Green List (High Evidence).",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:09:46.369062+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C19orf70 was added\ngene: C19orf70 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf70 were set to 29618761; 27623147; 27485409\nPhenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM#\t618329\nReview for gene: C19orf70 was set to GREEN\nAdded comment: Three unrelated families reported. HGNC approved name MICOS13. \nSources: Expert list",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:47.020440+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIPEP as ready",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:47.013512+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mipep has been classified as Green List (High Evidence).",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:35.656679+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIPEP as ready",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:35.649211+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mipep has been classified as Green List (High Evidence).",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:35.431094+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIPEP as Green List (high evidence)",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:35.425115+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mipep has been classified as Green List (High Evidence).",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:01:15.234081+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIPEP was added\ngene: MIPEP was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIPEP were set to 27799064\nPhenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM#\t617228\nReview for gene: MIPEP was set to GREEN\nAdded comment: Four unrelated children reported. \nSources: Expert list",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:00:21.798065+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIPEP as Green List (high evidence)",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T18:00:21.789328+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mipep has been classified as Green List (High Evidence).",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T17:59:43.183723+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIPEP was added\ngene: MIPEP was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIPEP were set to 27799064\nPhenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM#\t617228\nReview for gene: MIPEP was set to GREEN\nAdded comment: Four unrelated children reported. \nSources: Expert list",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2020-01-05T17:55:41.380930+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS14 was added\ngene: MRPS14 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS14 were set to 30358850\nPhenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM#\t618378\nReview for gene: MRPS14 was set to RED\nAdded comment: Single individual reported, functional data. \nSources: Expert list",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-01-05T17:53:24.134283+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS14 as ready",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-01-05T17:53:24.128086+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps14 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-01-05T17:53:13.007206+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS14 was added\ngene: MRPS14 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS14 were set to 30358850\nPhenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM#\t618378\nReview for gene: MRPS14 was set to RED\nAdded comment: Single individual reported, functional data. \nSources: Expert list",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:55:40.492669+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHG2 as ready",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:55:40.486621+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhg2 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:55:25.748436+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEKHG2 was added\ngene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHG2 were set to 26573021\nPhenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM#\t616763\nReview for gene: PLEKHG2 was set to RED\nAdded comment: Five individuals from two unrelated families reported, same homozygous missense variant. \nSources: Expert list",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:46:38.150712+11:00",
"panel_name": "Optic Atrophy_VCGS",
"panel_id": 149,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:46:38.143892+11:00",
"panel_name": "Optic Atrophy_VCGS",
"panel_id": 149,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:46:34.375322+11:00",
"panel_name": "Optic Atrophy_VCGS",
"panel_id": 149,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:45:54.715399+11:00",
"panel_name": "Optic Atrophy_VCGS",
"panel_id": 149,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFM1 were set to ",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:45:22.660138+11:00",
"panel_name": "Optic Atrophy_VCGS",
"panel_id": 149,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:44:44.688974+11:00",
"panel_name": "Optic Atrophy_VCGS",
"panel_id": 149,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:43:46.932505+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:43:46.926683+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:43:43.609215+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:42:19.059049+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, MIM# 617899",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:42:07.671920+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:42:07.660683+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:41:52.907322+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:41:49.959377+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:41:12.245117+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFM1 were set to ",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:40:53.159289+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:40:28.862098+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:40:21.258347+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFM1 were set to ",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:39:19.863680+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:38:42.519425+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:32:42.157423+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIKESHI as ready",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:32:42.151132+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hikeshi has been classified as Green List (High Evidence).",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:32:33.273758+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIKESHI were changed from to Leukodystrophy, hypomyelinating, 13, MIM# 616881",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:32:17.698352+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIKESHI were set to ",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:31:57.152555+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIKESHI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:31:33.844043+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: None; Publications: 26545878; Phenotypes: Leukodystrophy, hypomyelinating, 13, MIM# 616881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIKESHI",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:24:40.631937+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIMP2 was added\ngene: AIMP2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIMP2 were set to 29215095\nPhenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17\t618006\nReview for gene: AIMP2 was set to RED\nAdded comment: Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination \nSources: Expert list",
"entity_name": "AIMP2",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:11:56.076380+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM63A as ready",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:11:56.069688+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem63a has been classified as Green List (High Evidence).",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:11:45.553612+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM63A as Green List (high evidence)",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:11:45.547631+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem63a has been classified as Green List (High Evidence).",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:11:19.699935+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM63A was added\ngene: TMEM63A was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM63A were set to 31587869\nPhenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM#\t618688\nReview for gene: TMEM63A was set to GREEN\nAdded comment: Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth. \nSources: Expert list",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:05:44.547933+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPRS were changed from to Leukodystrophy, hypomyelinating, 15, MIM# 617951",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:05:25.129837+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPRS were set to ",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:05:10.336533+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPRS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-01-05T16:04:49.808590+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576217; Phenotypes: Leukodystrophy, hypomyelinating, 15, MIM# 617951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:59:46.530798+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD3 as ready",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:59:46.523978+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd3 has been classified as Red List (Low Evidence).",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:59:36.694954+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FZD3 as Red List (low evidence)",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:59:36.687187+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd3 has been classified as Red List (Low Evidence).",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:59:18.369274+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:58:57.606679+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD3 as ready",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:58:57.597715+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd3 has been classified as Red List (Low Evidence).",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:58:52.867431+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FZD3 as Red List (low evidence)",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:58:52.851957+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd3 has been classified as Red List (Low Evidence).",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:58:18.132167+11:00",
"panel_name": "Cerebellar and Pontocerebellar hypoplasia_VCGS",
"panel_id": 72,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:57:49.037137+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD3 as ready",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:57:49.030080+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd3 has been classified as Red List (Low Evidence).",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:57:40.275107+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FZD3 as Red List (low evidence)",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:57:40.256422+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd3 has been classified as Red List (Low Evidence).",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:57:28.494215+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FZD3",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:51:35.911601+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Amber List (moderate evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:51:35.905627+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:51:16.547174+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:50:45.921109+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3B as Amber List (moderate evidence)",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:50:45.914289+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:50:09.136492+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.",
"entity_name": "H3F3B",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:49:45.283085+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: H3F3A as ready",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:49:45.274783+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: h3f3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "H3F3A",
"entity_type": "gene"
},
{
"created": "2020-01-05T14:49:34.748895+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: H3F3A as Amber List (moderate evidence)",
"entity_name": "H3F3A",
"entity_type": "gene"
}
]
}