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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1204",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1202",
"results": [
{
"created": "2021-09-23T10:03:39.466941+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KDM6A were set to ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:03:31.470132+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KDM6A as Green List (high evidence)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:03:31.459161+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:03:17.669814+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33674768; Phenotypes: Kabuki syndrome 2 MIM#300867, brachydactyly, clinodactyly; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:58:13.499647+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: FOXG1 was added\ngene: FOXG1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXG1 were set to 34077496; 33528536\nPhenotypes for gene: FOXG1 were set to Cerebral Palsy; Rett syndrome, congenital variant MIM# 613454\nReview for gene: FOXG1 was set to GREEN\nAdded comment: 5 individuals in CP cohort reported with mono-allelic (de novo) FOXG1 variants.\r\nAll individuals presented with movement impairments (3 with Spastic quadriplegia), intellectual disability, and microcephaly (and 2 individuals with seizures). \nSources: Expert list",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:55:35.356397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FMN1 as ready",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:55:35.345522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:54:44.567838+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IFT57 as ready",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:54:44.558515+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ift57 has been classified as Red List (Low Evidence).",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:54:38.127002+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: IFT57 were set to ",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:54:33.066887+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-23T09:52:02.761052+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HDAC4.",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:51:47.868460+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to ",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:51:33.833906+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Amber List (moderate evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:51:33.824071+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:47:48.626045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FMN1 as Amber List (moderate evidence)",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:47:48.616031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:47:25.143934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FMN1 was added\ngene: FMN1 was added to Mendeliome. Sources: Literature\nSV/CNV tags were added to gene: FMN1.\nMode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FMN1 were set to 20610440; 19383632; 15202026\nPhenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects\nReview for gene: FMN1 was set to AMBER\nAdded comment: A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome. \nSources: Literature",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:44:06.623442+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FMN1 as ready",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:44:06.611929+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:44:01.171441+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FMN1 were changed from to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:43:37.245624+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FMN1 were set to ",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:38:08.422094+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FMN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:37:58.140180+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FMN1 as Amber List (moderate evidence)",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:37:58.131407+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:37:52.009194+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FMN1.",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T09:37:03.530902+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FMN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20610440, 19383632, 15202026; Phenotypes: oligosyndactyly, radioulnar synostosis, hearing loss, renal defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:42:36.048012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LBX1 as ready",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:42:36.038781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:42:28.055033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LBX1 as Amber List (moderate evidence)",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:42:28.043463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:42:10.465504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBX1 was added\ngene: LBX1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LBX1 were set to 30487221\nPhenotypes for gene: LBX1 were set to Central hypoventilation syndrome, congenital, 3, MIM#619483\nReview for gene: LBX1 was set to AMBER\nAdded comment: Two siblings reported with homozygous LoF variant in this gene, supportive mouse model. \nSources: Expert Review",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:40:40.220441+10:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LBX1 as ready",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:40:40.209732+10:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:38:50.892327+10:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LBX1 as Amber List (moderate evidence)",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:38:50.880976+10:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:38:14.819949+10:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBX1 was added\ngene: LBX1 was added to Central Hypoventilation. Sources: Expert Review\nMode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LBX1 were set to 30487221\nPhenotypes for gene: LBX1 were set to Central hypoventilation syndrome, congenital, 3, MIM#619483\nReview for gene: LBX1 was set to AMBER\nAdded comment: Two siblings reported with homozygous LoF variant in this gene, supportive mouse model. \nSources: Expert Review",
"entity_name": "LBX1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:37:18.333480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW4 were changed from to Split-hand/foot malformation 3 syndrome MIM#246560",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:36:46.391891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: B9D1 were set to 24886560; 21493627; 25920555",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:28:00.869227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBXW4 were set to ",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:25:31.835682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FBXW4 as Red List (low evidence)",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:25:31.826622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbxw4 has been classified as Red List (Low Evidence).",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:24:55.577110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9211",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: None; Publications: 12913067, 16235095, 27600068; Phenotypes: Split-hand/foot malformation 3 syndrome MIM#246560; Mode of inheritance: None",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:21:47.573755+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBXW4 as ready",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:21:47.561742+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbxw4 has been classified as Red List (Low Evidence).",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:21:35.059802+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBXW4 were set to ",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:21:17.930059+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: None; Publications: 12913067, 16235095, 27600068; Phenotypes: Split-hand/foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:11:23.622106+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBLN1 were set to ",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:11:09.239281+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBLN1 as ready",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:11:09.229234+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbln1 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:53.774005+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAT1 as ready",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:53.763737+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fat1 has been classified as Green List (High Evidence).",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:49.902765+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:40.594857+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAT1 were set to ",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:25.643406+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:16.291112+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAT1 as Green List (high evidence)",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:09:16.280118+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fat1 has been classified as Green List (High Evidence).",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:08:31.579711+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:08:31.569494+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:08:25.108519+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EP300 as Green List (high evidence)",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:08:25.104289+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limb anomalies are a feature of Rubinstein-Taybi syndrome",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-09-23T08:08:25.071856+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-09-23T01:01:43.617231+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.192",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: IMPDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34305140; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IMPDH2",
"entity_type": "gene"
},
{
"created": "2021-09-22T22:39:57.146179+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: Two cases with compound heterozygous missense variants in PIGN were identified in a retrospective reanalysis of a large Clinical Laboratory referral cohort with cerebral palsy. Limb hypertonia and spasticity have been described in some children with Multiple congenital anomalies-hypotonia-seizures syndrome 1. Most children with Multiple congenital anomalies-hypotonia-seizures syndrome 1 die before 3 years of age, however missense variants have been reported to cause a less severe clinical phenotype.An additional case with a homozygous missense variant in PIGN was described to have atypical cerebral palsy with multiple other anomalies.; to: Two cases with compound heterozygous missense variants in PIGN were identified in a retrospective reanalysis of a large Clinical Laboratory referral cohort with cerebral palsy. Limb hypertonia and spasticity have been described in some children with Multiple congenital anomalies-hypotonia-seizures syndrome 1. Most children with Multiple congenital anomalies-hypotonia-seizures syndrome 1 die before 3 years of age, however missense variants have been reported to cause a less severe clinical phenotype. An additional case with a homozygous missense variant in PIGN was described to have atypical cerebral palsy with multiple other anomalies.",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-22T22:39:25.389085+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-22T22:39:18.915358+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: PIGN: Added comment: Two cases with compound heterozygous missense variants in PIGN were identified in a retrospective reanalysis of a large Clinical Laboratory referral cohort with cerebral palsy. Limb hypertonia and spasticity have been described in some children with Multiple congenital anomalies-hypotonia-seizures syndrome 1. Most children with Multiple congenital anomalies-hypotonia-seizures syndrome 1 die before 3 years of age, however missense variants have been reported to cause a less severe clinical phenotype.An additional case with a homozygous missense variant in PIGN was described to have atypical cerebral palsy with multiple other anomalies.; Changed rating: GREEN; Changed publications: PMID: 33528536, PMID: 34540776",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-22T22:20:30.593996+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PIGN was added\ngene: PIGN was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGN were set to PMID: 33528536\nPhenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1 (OMIM 614080)\nReview for gene: PIGN was set to AMBER\nAdded comment: Two cases with compound heterozygous missense variants in PIGN were identified in a retrospective reanalysis of a large Clinical Laboratory referral cohort with cerebral palsy. Limb hypertonia and spasticity have been described in some children with Multiple congenital anomalies-hypotonia-seizures syndrome 1. Most children with Multiple congenital anomalies-hypotonia-seizures syndrome 1 die before 3 years of age, however missense variants have been reported to cause a less severe clinical phenotype. \nSources: Literature",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-22T21:58:40.201288+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. One male with spastic diplegic cerebral palsy described with a hemizygous predicted pathogenic variant. \nSources: Literature; to: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. One male with spastic diplegic cerebral palsy described with a hemizygous predicted pathogenic variant.\r\nSources: Literature",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-09-22T21:57:36.779914+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PCDH19 was added\ngene: PCDH19 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PCDH19 was set to Other\nPublications for gene: PCDH19 were set to PMID: 34321325\nPhenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (OMIM 300088)\nReview for gene: PCDH19 was set to RED\nAdded comment: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. One male with spastic diplegic cerebral palsy described with a hemizygous predicted pathogenic variant. \nSources: Literature",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-09-22T21:36:57.525674+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to PMID: 34321325; PMID: 29556033\nPhenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1 (OMIM 251280)\nReview for gene: PCDH12 was set to GREEN\nAdded comment: One case with homozygous nonsense variant reported with dysmorphic features, dystonic cerebral palsy and comorbidities including intellectual disability. Second individual with compound heterozygous truncating PCDH12 variants diagnosed as dyskinetic cerebral palsy with epilepsy and severe intellectual disability. Biallelic PCDH12 mutations cause a syndromic neurodevelopmental disorder with spasticity or dystonia. \nSources: Literature",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:50:34.393853+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFP57 as ready",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:50:34.381911+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp57 has been classified as Green List (High Evidence).",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:50:28.284215+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZFP57 were set to 18622393; 23150280; 25848000",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:47:47.914860+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MKRN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MKRN3",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:46:39.275217+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MKRN3.\nTag 5'UTR tag was added to gene: MKRN3.",
"entity_name": "MKRN3",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:45:37.836676+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKRN3 as ready",
"entity_name": "MKRN3",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:45:37.823685+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkrn3 has been classified as Green List (High Evidence).",
"entity_name": "MKRN3",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:45:32.194629+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKRN3 were set to PMID: 23738509; http://igc.otago.ac.nz/home.html; 30794780",
"entity_name": "MKRN3",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:43:46.325050+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK9 as ready",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:43:46.313389+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk9 has been classified as Green List (High Evidence).",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:43:43.952240+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK9 were changed from Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain; Birk-Barel syndrome to Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain; Birk-Barel syndrome, MIM# 612292; MONDO:0012856",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:43:23.279602+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK9 were set to http://igc.otago.ac.nz/home.html; PMID: 24667089; 18678320; 30794780",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:42:49.876239+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:41:22.172773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:41:22.164070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T16:34:43.733985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553; Cardiomyopathy, dilated, 1NN, MIM# 615916",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:56:48.845699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:56:28.522588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:56:11.760067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:54:48.566612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17603483, 17603482, 31145547, 31030682, 29271604, 24777450; Phenotypes: Noonan syndrome 5, MIM# 611553, Cardiomyopathy, dilated, 1NN, MIM# 615916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:52:50.121329+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:52:50.110186+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:52:47.871908+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan syndrome to Cardiomyopathy, dilated, 1NN, MIM# 615916; Noonan syndrome 5, MIM# 611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:52:37.955741+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to 17603482; 17603483",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:52:23.764622+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN, MIM# 615916, Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:45:49.997430+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:45:49.987152+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:45:47.539853+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from to IMAGe syndrome, MIM# 614732",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:45:19.789624+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKN1C were set to ",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-09-22T15:44:52.454697+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CDKN1C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CDKN1C",
"entity_type": "gene"
}
]
}