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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1052",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1050",
"results": [
{
"created": "2022-01-13T17:06:54.777092+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2011",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NUAK2 as Red List (low evidence)",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:06:54.763173+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2011",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nuak2 has been classified as Red List (Low Evidence).",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:06:41.364355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2010",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NUAK2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 32845958; Phenotypes: ?Anencephaly 2, OMIM #619452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:02:52.625420+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2010",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FZD2 as Green List (high evidence)",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:02:52.614932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2010",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fzd2 has been classified as Green List (High Evidence).",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:56:42.534299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2009",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FZD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25759469, 30455931, 29383834, 29230162,; Phenotypes: Omodysplasia 2, OMIM #164745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:49:00.829717+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2009",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRPV3 as Red List (low evidence)",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:49:00.819143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2009",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trpv3 has been classified as Red List (Low Evidence).",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:48:59.969058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2009",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRPV3 as Red List (low evidence)",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:48:59.952814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2009",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trpv3 has been classified as Red List (Low Evidence).",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:48:49.380326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2008",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:47:17.969427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2008",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TACR3 as Red List (low evidence)",
"entity_name": "TACR3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:47:17.956390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2008",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tacr3 has been classified as Red List (Low Evidence).",
"entity_name": "TACR3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:47:06.065022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2007",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TACR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TACR3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:45:33.254070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2007",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:45:26.049087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2007",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:45:10.876734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2007",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TSFM as Green List (high evidence)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:45:10.865863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2007",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Green List (High Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:45:01.342570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2006",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Combined oxidative phosphorylation deficiency-3 not presenting antenatally. Not suitable for fetal anomalies panel.; to: Combined oxidative phosphorylation deficiency-3 can present with paucity of fetal movements, IUGR, and hypertrophic cardiomyopathy postnatally. Suitable for fetal anomalies panel.",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:40:12.595892+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2006",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TSFM as Red List (low evidence)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:40:12.583411+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2006",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Red List (Low Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:40:00.234755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:36:21.869066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TUBB3 as Green List (high evidence)",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:36:21.859515+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:36:07.978081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20829227, 25059107, 32169460, 30272120; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039, Fibrosis of extraocular muscles, congenital, 3A, OMIM # 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:22:36.546273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TUBG1 as Green List (high evidence)",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:22:36.533849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tubg1 has been classified as Green List (High Evidence).",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:22:00.397296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2003",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23603762, 29706637, 33728335; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:07:58.716629+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2003",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VDR as Red List (low evidence)",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:07:58.705853+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2003",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vdr has been classified as Red List (Low Evidence).",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:07:45.498961+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:06:10.627306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Primary lymphoedema not presenting antenatally. Not suitable for fetal anomalies panel.; to: Primary lymphoedema not presenting antenatally. Not suitable for fetal anomalies panel.",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:06:00.332794+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VEGFC as Red List (low evidence)",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:06:00.306879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2002",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vegfc has been classified as Red List (Low Evidence).",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:05:46.705460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2001",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: VEGFC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "VEGFC",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:02:41.699993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2001",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WNT3 as Red List (low evidence)",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:02:41.689446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2001",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wnt3 has been classified as Red List (Low Evidence).",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2022-01-13T16:02:29.560435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2000",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14872406; Phenotypes: ?Tetra-amelia syndrome 1, OMIM #273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:56:41.402589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2000",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.; to: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.\r\nSuitable for fetal anomalies panel.",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:56:09.848132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2000",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZNF462 as Green List (high evidence)",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:56:09.837178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2000",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: znf462 has been classified as Green List (High Evidence).",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:55:53.248001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1999",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: ZNF462: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:32:10.150522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:32:10.137310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:32:06.171498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM6A were changed from KABUKI SYNDROME 2 to Kabuki syndrome 2, MIM# 300867",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:31:47.235735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cannot find specific reports of CDH in association with variants in this gene.; to: Multiple congenital anomalies syndrome.",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:31:35.735443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDM6A: Changed rating: GREEN",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:31:04.080145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:31:04.064217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:30:59.743767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:30:46.489175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:30:30.062066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:30:29.272338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:30:13.065015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.\r\n\r\nMicro and macrocephaly reported.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:28:05.230332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ1 as ready",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:28:05.219935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj1 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:27:39.392875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ1 were changed from Bartter syndrome 241200 to Bartter syndrome, type 2, MIM#241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:27:10.275345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: I am not convinced ID is an intrinsic part of the phenotype.; to: Can present with polyhydramnios.",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:26:56.692009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ1: Changed rating: GREEN",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:26:34.303905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANSL1 as ready",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:26:34.291504+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Green List (High Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:26:30.876797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANSL1 were changed from CHROMOSOME 17Q21.31 MICRODELETION SYNDROME to Koolen-De Vries syndrome (MIM#610443)",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:26:19.318202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KANSL1 were set to ",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:26:08.824449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KANSL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:25:57.916338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, CNVs common.; to: Well established gene-disease association, CNVs common. Cardiac and GU abnormalities reported.",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:24:37.117846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:24:37.106658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:24:33.165711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from ALAGILLE SYNDROME to Alagille syndrome 1, MIM#118450",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:23:18.586897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:23:06.636673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not typically part of the phenotype.; to: Congenital heart disease is part of the phenotype.",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:22:50.603247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JAG1: Changed rating: GREEN",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:19:46.185412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC33A1 as ready",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:19:46.175539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:19:28.917043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Spastic paraplegia 42, autosomal dominant, MIM# 612539",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:19:11.195070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC33A1 were set to ",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:18:52.562328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:18:33.121761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315, 19061983, 20461110; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482, Spastic paraplegia 42, autosomal dominant, MIM# 612539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:16:01.039454+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC33A1 were changed from CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482 to Congenital cataracts, hearing loss, and neurodegeneration, MIM#\t614482",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:14:59.408446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN1 as ready",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:14:59.324506+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn1 has been classified as Green List (High Evidence).",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:14:53.184230+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCTN1 as Green List (high evidence)",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:14:53.173102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn1 has been classified as Green List (High Evidence).",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:13:58.643099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPKC as ready",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:13:58.633569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpkc has been classified as Red List (Low Evidence).",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:13:48.877850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPKC were set to ",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:12:58.010155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITPKC as Red List (low evidence)",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:12:57.994707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpkc has been classified as Red List (Low Evidence).",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:12:17.452781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAMLD1 as ready",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:12:17.443029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mamld1 has been classified as Green List (High Evidence).",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:11:56.276591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2 (MIM#300758)",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:11:40.713432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAMLD1 were set to ",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:11:27.709481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAMLD1 as Green List (high evidence)",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:11:27.699010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mamld1 has been classified as Green List (High Evidence).",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:11:07.199385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:10:59.522695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MAMLD1: Multiple individuals reported with hypospadias PMID: 26815876: 3’UTR is associated with increased risk of isolated hypospadias in Indian children",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:10:58.615185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:09:54.106354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAMLD1 as ready",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:09:54.094921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mamld1 has been classified as Green List (High Evidence).",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:09:36.947808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAMLD1 were changed from to Hypospadias 2 (MIM#300758)",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-13T15:09:17.528622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAMLD1 were set to ",
"entity_name": "MAMLD1",
"entity_type": "gene"
}
]
}