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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1060",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1058",
"results": [
{
"created": "2022-01-06T11:27:07.530018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17343269, 9585583, 12116251, 31299755, 30040876; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-01-06T11:17:55.533811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-01-06T11:17:55.523185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: uros has been classified as Red List (Low Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-01-06T11:17:47.784499+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: UROS as Red List (low evidence)",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-01-06T11:17:47.779636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: fetal anomalies not a typical finding.",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-01-06T11:17:47.754856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: uros has been classified as Red List (Low Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-01-06T11:17:09.121382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1865",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: UROS: Rating: RED; Mode of pathogenicity: None; Publications: 24027798, 12533808; Phenotypes: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (MIM #263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-01-06T09:55:24.241001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDK3 as ready",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2022-01-06T09:55:24.228848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdk3 has been classified as Green List (High Evidence).",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2022-01-06T09:55:16.884272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDK3 were changed from to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2022-01-06T09:55:00.671200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDK3 were set to ",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2022-01-06T09:54:35.829161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2022-01-05T23:05:04.313401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10519",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: None",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:38:48.125227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM9 as ready",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:38:48.114088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm9 has been classified as Green List (High Evidence).",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:38:37.390873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM9 as Green List (high evidence)",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:38:37.379946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm9 has been classified as Green List (High Evidence).",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:38:19.615162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM9 was added\ngene: PRDM9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM9 were set to 34257419\nPhenotypes for gene: PRDM9 were set to Inherited primary ovarian failure MONDO:0019852\nReview for gene: PRDM9 was set to GREEN\nAdded comment: The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals. 3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination. \nSources: Literature",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:36:22.538761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DZIP1L as ready",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:36:22.528576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dzip1l has been classified as Green List (High Evidence).",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:36:14.321603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DZIP1L were changed from to Polycystic kidney disease 5, MIM#617610",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:35:56.012674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DZIP1L were set to ",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:35:39.254428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DZIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:35:16.027116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530676; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:34:38.565136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DZIP1L as ready",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:34:38.554134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dzip1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:34:07.822551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPA2 as ready",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:34:07.805940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppa2 has been classified as Green List (High Evidence).",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:34:02.617437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DZIP1L were set to ",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:33:48.710783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:31:57.680509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:31:39.677184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPA2 were set to ",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:31:21.385206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:30:56.578566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:30:09.670589+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPA2 as ready",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:30:09.660198+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppa2 has been classified as Green List (High Evidence).",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:30:03.589600+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPA2 were set to 27523598",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:29:05.377689+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM9 were changed from Premature ovarian insufficiency, no OMIM # to Inherited primary ovarian failure MONDO:0019852",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:27:05.881617+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM9 as ready",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:27:05.869952+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm9 has been classified as Green List (High Evidence).",
"entity_name": "PRDM9",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:26:23.348787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA20 as ready",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:26:23.338867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa20 has been classified as Green List (High Evidence).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:26:13.189897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA20 as Green List (high evidence)",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:26:13.179686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa20 has been classified as Green List (High Evidence).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:25:56.420144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAA20 was added\ngene: NAA20 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAA20 were set to 34230638\nPhenotypes for gene: NAA20 were set to Intellectual disability; Microcephaly; Neurodevelopmental disorder MONDO:0700092\nReview for gene: NAA20 was set to GREEN\nAdded comment: 2 consanguineous families with 5 affected individuals with developmental delay, intellectual disability, and microcephaly (-2-4SD). Exome and genome sequencing identified 2 different homozygous variants in NAA20 gene (p.Met54Val and p.Ala80Val), and segregated with affected individuals. N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. Both NAA20-M54V and NAA20-A80V were impaired in their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates. \nSources: Literature",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:23:09.879218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA20 as ready",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:23:09.864793+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa20 has been classified as Green List (High Evidence).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:22:59.609389+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive developmental delay, intellectual disability, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:21:56.514080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REN as ready",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:21:56.502366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ren has been classified as Green List (High Evidence).",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:21:52.805716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REN were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM#267430",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:21:40.598362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REN were set to 31736371",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:21:24.479104+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:20:15.954685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G7 as ready",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:20:15.943305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g7 has been classified as Red List (Low Evidence).",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:20:07.777429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G7 were changed from to Platelet-activating factor acetylhydrolase deficiency MIM#614278",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:19:40.737511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G7 were set to ",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:19:22.482855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:19:01.976078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLA2G7 as Red List (low evidence)",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:19:01.966126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g7 has been classified as Red List (Low Evidence).",
"entity_name": "PLA2G7",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:18:18.513464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:18:18.503305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Green List (High Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:18:14.916677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from LISSENCEPHALY 2 to Lissencephaly 2 (Norman-Roberts type), MIM# 257320",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:17:50.422102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELN were set to ",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:17:07.018511+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB23 as ready",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:17:07.008478+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Green List (High Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:17:03.160634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB23 were changed from to Carpenter syndrome (MIM#201000)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:16:36.932492+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB23 were set to ",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:15:56.196602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:15:28.724213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:14:35.435732+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB23 were changed from 201000 CARPENTER SYNDROME to Carpenter syndrome (MIM#201000)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:13:17.474947+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB23 as ready",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:13:17.459112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Green List (High Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:13:13.589863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB23 were changed from ACROCEPHALOPOLYSYNDACTYLY TYPE 2 to Carpenter syndrome (MIM#201000)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:13:00.298796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB23 were set to ",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:12:27.997291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1858",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530676; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:10:32.897504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB23 as ready",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:10:32.886385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab23 has been classified as Green List (High Evidence).",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:10:15.749672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB23 were changed from to Carpenter syndrome (MIM#201000)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:09:56.555495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB23 were set to ",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:09:37.884853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:08:49.496458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ10 as ready",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:08:49.485676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj10 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:08:40.999098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ10 were changed from SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE to SESAME syndrome (MIM#612780); Enlarged vestibular aqueduct, digenic (MIM#600791)",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:07:20.280043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ10 were set to ",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:06:19.502139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG1 as ready",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:06:19.492433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg1 has been classified as Green List (High Evidence).",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:06:12.268735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:05:54.103287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG1 were set to ",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:05:34.130902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:04:59.199425+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG1 as ready",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:04:59.189091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:04:55.191232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG1 were changed from SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:04:41.897578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG1 were set to ",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T18:04:22.339299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26288349; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2022-01-05T17:59:18.060868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPF2 as ready",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T17:59:18.044723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpf2 has been classified as Green List (High Evidence).",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T17:59:14.475182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPF2 were changed from Coffin Siris like disorder to Coffin-Siris syndrome 7, MIM#618027",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T17:59:02.975391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPF2 were set to ",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T17:58:47.641795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPF2 as ready",
"entity_name": "DPF2",
"entity_type": "gene"
}
]
}