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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=788",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=786",
"results": [
{
"created": "2022-07-29T08:19:57.276209+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:19:48.068263+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM10: Added comment: Upgraded due to functional evidence.; Changed rating: AMBER",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:19:14.990284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM10 were set to 32865517; 33712616",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:18:54.175443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM10 as Amber List (moderate evidence)",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:18:54.162571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:18:37.517168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM10: Added comment: PMID 33712616: further functional validation.; Changed rating: AMBER; Changed publications: 32865517, 33712616, 33712616",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:17:46.217288+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM10 were set to 32865517",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:16:44.472930+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM10 as Amber List (moderate evidence)",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:16:44.460012+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:15:28.590832+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASXL3 were set to ",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:14:13.481645+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASXL3 as Green List (high evidence)",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:14:13.473409+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Green List (High Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:13:20.236609+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEBPE as ready",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:13:20.205476+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:13:17.295602+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPE were changed from Autoinflammation to Autoinflammatory syndrome MONDO:0019751, CEBPE-related",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:12:21.519787+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEBPE as Amber List (moderate evidence)",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:12:21.508251+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpe has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:11:55.272561+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three individuals from a single family homozygous for a missense variant. Extensive functional data presented.; to: Three individuals from a single family homozygous for a missense variant. Extensive functional data presented. Gene already has an established role in immunological disorders.",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:11:27.708753+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEBPE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:06:54.156471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF1 were changed from Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:06:10.947772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF1 were set to 21548011; 26981933; 29889099; 31057532; 7923373; 11805317",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:05:45.432971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF1: Added comment: PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.; Changed publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317, 35333544; Changed phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset, Immune dysregulation",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:02:26.057827+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBK1 were changed from Autoinflammation to Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:00:25.013022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T08:00:03.924241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF2 were set to 34920454",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:59:42.600649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:59:23.155691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF2: Added comment: Iranian male with homozygous missense variant with recurrent infection, hypogammaglobulinaemia. Extends inheritance to AR. Supportive functional data.; Changed publications: 34920454, 34826259; Changed phenotypes: Immunodeficiency, MONDO:0021094, IKZF2-related, Immune dysregulation; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:58:15.866947+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:57:02.582486+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF2 were set to 34920454",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:56:32.507598+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:08:39.341795+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:08:23.437303+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:08:05.536560+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:07:35.255766+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:07:11.444824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM63C as ready",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:07:11.435041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem63c has been classified as Green List (High Evidence).",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:07:02.855623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-29T07:06:40.187938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM63C",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:54:22.608429+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT10A as ready",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:54:22.594923+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt10a has been classified as Red List (Low Evidence).",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:54:12.102864+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT10A as Red List (low evidence)",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:54:12.092260+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt10a has been classified as Red List (Low Evidence).",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:26:44.881945+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TFR2.",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:25:59.255554+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECPR2 as ready",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:25:59.247186+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:25:53.073600+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TECPR2 as Green List (high evidence)",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:25:53.061982+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:25:42.558247+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:24:50.518084+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TAT.",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:24:14.618603+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC4A11.",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:23:40.403210+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A4 as ready",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:23:40.391360+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:23:33.632653+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A4 as Red List (low evidence)",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:23:33.624215+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:23:19.063854+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791), Pendred syndrome (MIM#274600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:22:26.948850+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC12A3.",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:21:36.604723+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RS1.",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:21:10.120247+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PYGM.",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:20:12.426203+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: OAT.",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:19:34.774015+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: NR2E3.",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:15:51.946458+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MEFV.",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:15:15.017429+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:15:14.997077+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:15:03.779146+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCCC2 as Red List (low evidence)",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:15:03.770169+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:14:14.382606+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:13:38.137558+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC1 as ready",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:13:38.129021+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:13:32.567761+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCCC1 as Red List (low evidence)",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:13:32.555293+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:12:13.571487+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LOXHD1 as ready",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:12:13.562934+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: loxhd1 has been classified as Red List (Low Evidence).",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:11:57.864136+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LOXHD1 as Red List (low evidence)",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:11:57.852564+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: loxhd1 has been classified as Red List (Low Evidence).",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:11:47.565998+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LOXHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77 (MIM#613079); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:07:47.827450+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPK1 were set to 31053777",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:07:19.409686+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979; Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:06:49.558292+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALPK1 as Green List (high evidence)",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T18:06:49.548574+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpk1 has been classified as Green List (High Evidence).",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T16:30:16.154002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.179",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:30455415, 32748548; Phenotypes: Aortic valve disease 8 MIM#618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2022-07-28T13:51:37.313500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.179",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31882561; Phenotypes: Leukoencephalopathy with vanishing white matter MIM#603896, permanent neonatal/early onset diabetes and transient liver dysfunction; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:53:24.211239+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IKZF1 as ready",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:53:24.201860+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikzf1 has been classified as Green List (High Evidence).",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:53:05.895420+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IKZF1 as Green List (high evidence)",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:53:05.884038+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikzf1 has been classified as Green List (High Evidence).",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:04:19.589714+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TBK1 as ready",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:04:19.576753+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tbk1 has been classified as Green List (High Evidence).",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:03:09.819369+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TBK1 as Green List (high evidence)",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T10:03:09.808386+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tbk1 has been classified as Green List (High Evidence).",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T09:10:52.206680+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RECQL as ready",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-07-28T09:10:52.194642+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: recql has been classified as Amber List (Moderate Evidence).",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-07-28T09:10:32.088338+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RECQL as Amber List (moderate evidence)",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-07-28T09:10:32.079626+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: recql has been classified as Amber List (Moderate Evidence).",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2022-07-28T08:23:15.681435+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-27T15:27:42.326751+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.91",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: MCM10: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33712616; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2022-07-27T11:32:51.864461+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.33",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35863334, 33528536; Phenotypes: Bainbridge-Ropers syndrome (MIM #615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:03:40.623370+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964",
"entity_name": "ARFGEF1",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:03:09.932478+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARFGEF1: Changed phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964",
"entity_name": "ARFGEF1",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:03:05.236423+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.156",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: CEBPE was added\ngene: CEBPE was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEBPE were set to PMID: 31201888\nPhenotypes for gene: CEBPE were set to Autoinflammation\nMode of pathogenicity for gene: CEBPE was set to Other\nReview for gene: CEBPE was set to AMBER\nAdded comment: Single family presenting with autoinflammatory syndrome - recurrent attacks of abdominal pain, aseptic fever, and systemic inflammation lasting 4 to 5 days. These were accompanied by an acute-phase response and occasionally by nailbed, tongue, submandibular and gluteal abscesses; intra-abdominal granulomas; pyoderma gangrenosum; and buccal ulcerations \nSources: Literature",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:02:57.921510+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964",
"entity_name": "ARFGEF1",
"entity_type": "gene"
}
]
}