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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1971",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1969",
"results": [
{
"created": "2020-01-22T12:23:22.339854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Green List (High Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:23:14.461143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHPS as ready",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:23:14.449628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Green List (High Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:23:01.547703+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHPS as Green List (high evidence)",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:23:01.534732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Green List (High Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:22:51.419933+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHPS as Green List (high evidence)",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:22:51.407008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Green List (High Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:21:54.903358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHPS was added\ngene: DHPS was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHPS were set to 30661771\nPhenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480\nReview for gene: DHPS was set to GREEN\ngene: DHPS was marked as current diagnostic\nAdded comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features \nSources: Expert list",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:21:45.698932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHPS was added\ngene: DHPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHPS were set to 30661771\nPhenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480\nReview for gene: DHPS was set to GREEN\ngene: DHPS was marked as current diagnostic\nAdded comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features \nSources: Expert list",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:21:21.970981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHPS as ready",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:21:20.837844+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Green List (High Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:20:43.690283+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHPS as Green List (high evidence)",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:20:43.678334+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Green List (High Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:18:33.486455+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHPS was added\ngene: DHPS was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHPS were set to 30661771\nPhenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480\nReview for gene: DHPS was set to GREEN\ngene: DHPS was marked as current diagnostic\nAdded comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features. \nSources: Expert list",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:13:34.955784+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHDDS as ready",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:13:34.944259+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:13:21.372313+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Green List (high evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:13:21.361010+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:12:22.681556+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHDDS as ready",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:12:22.669723+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:11:40.501811+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHDDS were set to 29100083\nPhenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836\nReview for gene: DHDDS was set to GREEN\ngene: DHDDS was marked as current diagnostic\nAdded comment: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype. \nSources: Expert list",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:09:17.005036+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Green List (high evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:09:16.991320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T12:08:16.490950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DHDDS were set to 29100083; 27343064\nPhenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, MIM#613861\nReview for gene: DHDDS was set to GREEN\ngene: DHDDS was marked as current diagnostic\nAdded comment: Five unrelated individuals with mono-allelic variants and a neurodevelopmental phenotype including seizures; one family with compound het variants and CDG phenotype, seizures a prominent feature of the clinical phenotype. \nSources: Expert list",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:55:55.551974+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEGS1 as ready",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:55:55.539957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:40:14.666998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEGS1 as Green List (high evidence)",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:40:14.654295+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:39:31.681912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEGS1 was added\ngene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DEGS1 were set to 31186544; 30620337; 30620338\nPhenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404\nReview for gene: DEGS1 was set to GREEN\nAdded comment: Multiple affected families, DD/ID is part of the phenotype. \nSources: Expert list",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:38:26.381467+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEGS1 as ready",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:38:26.370077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:37:36.910526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEGS1 as Green List (high evidence)",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:37:36.879108+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:36:42.196389+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEGS1 was added\ngene: DEGS1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DEGS1 were set to 31186544; 30620337; 30620338\nPhenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404\nReview for gene: DEGS1 was set to GREEN\ngene: DEGS1 was marked as current diagnostic\nAdded comment: Seizures are a prominent feature of the phenotype. \nSources: Expert list",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:32:40.182855+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEAF1 as ready",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:32:40.171063+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: deaf1 has been classified as Green List (High Evidence).",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:32:26.685680+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:31:58.165916+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:30:27.663337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEAF1 as ready",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:30:27.649325+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: deaf1 has been classified as Green List (High Evidence).",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:29:30.355773+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEAF1 as Green List (high evidence)",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:29:30.343715+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: deaf1 has been classified as Green List (High Evidence).",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:28:27.220744+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DEAF1 was added\ngene: DEAF1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DEAF1 were set to 30923367; 26048982; 28940898; 26834045\nPhenotypes for gene: DEAF1 were set to Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828\nReview for gene: DEAF1 was set to GREEN\ngene: DEAF1 was marked as current diagnostic\nAdded comment: Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions. \nSources: Expert list",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:12:18.065072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX1 as ready",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:12:18.053357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Red List (Low Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:12:08.669818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:11:36.316299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:11:26.782032+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBFOX1 were set to 24664471",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:11:16.531899+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX1 as ready",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:11:16.518262+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Red List (Low Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:11:05.830243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBFOX1 were set to ",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:10:52.919295+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Intellectual disability; autism",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:10:37.388622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX1 as Red List (low evidence)",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:10:37.375477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Red List (Low Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:10:15.154905+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:10:11.008225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:09:50.263170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBFOX1 were set to ",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:09:18.999407+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to Congenital disorder of glycosylation, type Ir, MIM# 614507",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:08:47.796351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:08:47.527093+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDOST as ready",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:08:47.514891+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:08:15.889140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:07:44.638653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX1 as Red List (low evidence)",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:07:44.625514+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Red List (Low Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:07:00.735355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:06:20.533781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDOST were set to ",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:03:27.563798+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:02:41.175709+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDOST as Amber List (moderate evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:02:41.162458+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:02:37.702691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDOST as ready",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:02:37.689427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:01:58.891662+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:01:51.722622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:01:30.104104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDOST were set to ",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:01:03.534844+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDOST as ready",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:01:03.522494+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:00:54.774951+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T11:00:30.377543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:58:31.040156+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDOST were set to ",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:58:19.382471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDOST as Amber List (moderate evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:58:19.369025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:57:49.058331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:57:42.818602+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:56:49.938112+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDOST as Amber List (moderate evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:56:49.926260+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:56:12.088757+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:52:43.700354+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2A as ready",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:52:43.688346+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:52:37.089787+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:52:37.077606+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:52:17.286886+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Skeletal Muscle Channelopathies_RMH to Skeletal Muscle Channelopathies\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-22T10:52:01.319168+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Cataract. Sources: Literature\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3C2A were set to 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440\nReview for gene: PIK3C2A was set to GREEN\ngene: PIK3C2A was marked as current diagnostic\nAdded comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype. \nSources: Literature",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:51:43.406700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2A as ready",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:51:43.393254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:50:37.441254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3C2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:49:33.372420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:49:33.360583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:49:15.517522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PIK3C2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3C2A were set to 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440\nReview for gene: PIK3C2A was set to GREEN\ngene: PIK3C2A was marked as current diagnostic\nAdded comment: Three unrelated consanguineous families reported. \nSources: Expert list",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:46:22.230308+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADI1 as ready",
"entity_name": "ADI1",
"entity_type": "gene"
},
{
"created": "2020-01-22T10:46:22.218536+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adi1 has been classified as Red List (Low Evidence).",
"entity_name": "ADI1",
"entity_type": "gene"
}
]
}