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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1675",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1673",
"results": [
{
"created": "2020-08-13T16:21:46.618041+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Red List (Low Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:21:39.678591+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EBP was added\ngene: EBP was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: EBP was set to Other\nPublications for gene: EBP were set to 23137060\nPhenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM#\t302960\nReview for gene: EBP was set to RED\nAdded comment: XLD. Listed as a cause of hydrops in a review, cannot find reported cases. \nSources: Expert list",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:20:17.569190+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:20:17.559650+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Red List (Low Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-08-13T16:19:38.988208+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FH was added\ngene: FH was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FH were set to 23137060\nPhenotypes for gene: FH were set to Fumarase deficiency, MIM#\t606812\nReview for gene: FH was set to RED\nAdded comment: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases. \nSources: Expert list",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-08-13T15:03:28.330392+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-13T15:03:28.317579+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-13T15:03:23.736407+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Green List (high evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-13T15:03:23.728642+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-13T15:03:01.835894+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR3 were set to 24075385\nPhenotypes for gene: FGFR3 were set to Thanatophoric dysplasia\nReview for gene: FGFR3 was set to GREEN\nAdded comment: Severe FGFR3-related disease can cause reduced fetal movements and hydrops. \nSources: Expert list",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:54:38.139350+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMPK as ready",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:54:38.130876+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmpk has been classified as Green List (High Evidence).",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:54:33.427982+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: DMPK.",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:54:25.654961+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMPK as Green List (high evidence)",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:54:25.646504+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmpk has been classified as Green List (High Evidence).",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:54:03.672656+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMPK was added\ngene: DMPK was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DMPK were set to 9134395\nPhenotypes for gene: DMPK were set to Myotonic dystrophy 1, MIM#\t160900\nReview for gene: DMPK was set to GREEN\nAdded comment: Reduced fetal movements and hydrops reported. Note triplet expansion may not be tractable depending on the assay used. \nSources: Expert list",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:39:46.432886+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:39:46.424583+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Red List (Low Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-13T14:39:39.305663+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to 23754335\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM#\t615937\nReview for gene: AKT3 was set to RED\nAdded comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified. \nSources: Expert list",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-12T20:52:08.230698+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAD1 as ready",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2020-08-12T20:52:08.220083+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2020-08-12T20:52:02.831849+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCAD1 as Amber List (moderate evidence)",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2020-08-12T20:52:02.821983+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:57:47.886639+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.41",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SMARCAD1 was added\ngene: SMARCAD1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMARCAD1 were set to 26932190; 24664640\nPhenotypes for gene: SMARCAD1 were set to Basan syndrome (MIM#129200)\nReview for gene: SMARCAD1 was set to AMBER\ngene: SMARCAD1 was marked as current diagnostic\nAdded comment: Associated with Basan syndrome which can present with Palmoplantar Keratoderma although it is not a major feature.\r\n\r\nTwo families with Basan syndrome where some individuals have PPK are described in 26932190 and 24664640.\r\n\r\nAmber in PanelApp GEL \nSources: Literature",
"entity_name": "SMARCAD1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:50:14.771342+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP29 as ready",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:50:14.733494+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:50:02.581205+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAP29 as Green List (high evidence)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:50:02.570868+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:49:26.345130+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT16 as ready",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:49:26.336277+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt16 has been classified as Green List (High Evidence).",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:49:23.720188+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:48:58.334674+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT16 were set to ",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:48:42.093765+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:48:06.943578+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT14 as ready",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:48:06.933893+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Green List (High Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:48:03.953535+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT14 were changed from to Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:47:45.296169+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT14 were set to ",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:47:23.461128+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:46:24.136330+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:46:24.127696+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:46:20.884644+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from to Naxos disease (MIM#601214)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:45:55.364281+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JUP were set to ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:45:39.249393+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:44:51.659009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANK2 as ready",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:44:51.648261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank2 has been classified as Green List (High Evidence).",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:44:43.976751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANK2 were changed from to Palmoplantar keratoderma and woolly hair (MIM#616099); Nephrotic syndrome, type 16, MIM#617783",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:44:26.823607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KANK2 were set to ",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:44:10.400098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:43:53.951024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457, 24671081; Phenotypes: Palmoplantar keratoderma and woolly hair (MIM#616099), Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:40:42.550644+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANK2 as ready",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:40:42.541002+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank2 has been classified as Red List (Low Evidence).",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:40:37.956748+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: KANK2.",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:40:31.723058+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KANK2 as Red List (low evidence)",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:40:31.712863+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank2 has been classified as Red List (Low Evidence).",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:39:12.761663+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJB6 as ready",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:39:12.738584+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb6 has been classified as Green List (High Evidence).",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:39:10.261175+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB6 were changed from to Ectodermal dysplasia 2, Clouston type (MIM# 129500)",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:38:48.549149+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJB6 were set to ",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:38:26.766607+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:37:31.584692+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:37:31.575675+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:37:29.418134+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from to Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100); Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:37:03.483366+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:36:41.016354+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:35:57.163928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM83G as ready",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:35:57.155603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam83g has been classified as Red List (Low Evidence).",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:35:46.906852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM83G was added\ngene: FAM83G was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM83G were set to 29138053\nPhenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy\nReview for gene: FAM83G was set to RED\nAdded comment: PMID: 29138053; - 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair - progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years > homozygous for a missense p.(Ala34Glu) \nSources: Expert list",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:34:21.551327+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM83G as ready",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:34:21.540322+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam83g has been classified as Red List (Low Evidence).",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:34:16.818394+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM83G as Red List (low evidence)",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:34:16.809957+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam83g has been classified as Red List (Low Evidence).",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:32:33.322686+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP1 as ready",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:32:33.311312+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp1 has been classified as Green List (High Evidence).",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:32:30.061255+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENPP1 were changed from to Cole disease (MIM#615522)",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:32:05.987528+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENPP1 were set to ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:31:40.198085+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENPP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:30:48.458542+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELOVL4 as ready",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:30:48.450169+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:30:43.235713+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELOVL4 as Green List (high evidence)",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:30:43.225596+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:29:58.906383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LONP2 as ready",
"entity_name": "LONP2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:29:58.896356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lonp2 has been classified as Red List (Low Evidence).",
"entity_name": "LONP2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:29:49.577668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LONP2 as Red List (low evidence)",
"entity_name": "LONP2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:29:49.568774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lonp2 has been classified as Red List (Low Evidence).",
"entity_name": "LONP2",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:28:40.109434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAST as ready",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:28:40.099803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cast has been classified as Green List (High Evidence).",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:28:32.403223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:28:16.144456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAST were set to ",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:27:58.893109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:27:33.764399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:26:23.332993+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAST as ready",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:26:23.322536+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cast has been classified as Green List (High Evidence).",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:26:20.933545+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:26:00.569852+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAST were set to ",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:24:40.613249+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:23:40.054487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD14 as ready",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:23:40.039604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card14 has been classified as Green List (High Evidence).",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:23:32.901442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:23:15.995125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARD14 were set to ",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:22:59.420985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CARD14",
"entity_type": "gene"
}
]
}