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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1030",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1028",
"results": [
{
"created": "2022-01-24T16:24:40.974247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10759",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:23:18.654864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF2 as ready",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:23:18.645112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Green List (High Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:23:09.291670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF2 as Green List (high evidence)",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:23:09.280681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Green List (High Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:22:51.695748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF2 was added\ngene: IKZF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF2 were set to 34920454\nPhenotypes for gene: IKZF2 were set to Immune dysregulation\nReview for gene: IKZF2 was set to GREEN\nAdded comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells. \nSources: Literature",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:21:23.701160+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF2 as ready",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:21:23.690797+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Green List (High Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:01:36.727746+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF2 as Green List (high evidence)",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:01:36.717351+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Green List (High Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T16:00:53.843234+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF2 was added\ngene: IKZF2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF2 were set to 34920454\nPhenotypes for gene: IKZF2 were set to Immune dysregulation\nReview for gene: IKZF2 was set to GREEN\nAdded comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells. \nSources: Literature",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:57:30.725868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHBDF2 as ready",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:57:30.705464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhbdf2 has been classified as Green List (High Evidence).",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:57:22.275880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHBDF2 were changed from to Tylosis with esophageal cancer, MIM# 148500; Immune dysregulation",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:56:59.001999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHBDF2 were set to ",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:56:37.438470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHBDF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:56:12.875948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770, 34937930; Phenotypes: Tylosis with esophageal cancer, MIM# 148500, Immune dysregulation; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:53:19.824336+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHBDF2 as ready",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:53:19.809662+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhbdf2 has been classified as Green List (High Evidence).",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:52:11.201712+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHBDF2 as Green List (high evidence)",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:52:11.191224+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhbdf2 has been classified as Green List (High Evidence).",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:51:41.854254+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3 families reported.; to: At least 3 families reported. Missense variants.\r\n\r\nNote bi-allelic LoF variants are associated with immune dysregulation.",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:51:37.151161+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHBDF2 was added\ngene: RHBDF2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHBDF2 were set to 34937930\nPhenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency\nReview for gene: RHBDF2 was set to GREEN\nAdded comment: 4 individuals from 2 families with LoF variants in this gene and recurrent infections. Functional data including mouse model.\r\n\r\nNote mono allelic (missense) variants in this gene are associated with tylosis. \nSources: Literature",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:48:55.422871+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHBDF2 as ready",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:48:55.409385+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhbdf2 has been classified as Green List (High Evidence).",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:48:51.556371+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHBDF2 were changed from to Tylosis with oesophageal cancer, MIM# 148500",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:48:17.907823+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHBDF2 were set to ",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:47:55.036589+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHBDF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:47:30.910781+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770; Phenotypes: Tylosis with esophageal cancer, MIM# 148500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHBDF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:29:59.588936+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:29:59.578147+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:29:57.554923+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 to D-bifunctional protein deficiency - MIM#261515",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:29:21.022520+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD17B4 as Green List (high evidence)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:29:21.011907+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T15:15:31.287121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10754",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11845407, 24961656, 32538359; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:51:07.145501+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:42:46.179261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency MIM#307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:41:18.166531+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.168",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)\r\n\r\nSources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)\r\n\r\nSources: Literature",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:40:15.352578+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.168",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102) \nSources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)\r\n\r\nSources: Literature",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:35:51.824728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10754",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:28:31.161464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:28:21.168636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:28:04.500676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANGPT2 were set to 32908006",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:27:46.169027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:27:26.224887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANGPT2: Added comment: Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed publications: 32908006, 34876502; Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema, Hydrops; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:23:59.282127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:22:27.313672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANGPT2 as ready",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:22:27.303955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angpt2 has been classified as Green List (High Evidence).",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:22:22.489308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANGPT2 as Green List (high evidence)",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:22:22.478166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angpt2 has been classified as Green List (High Evidence).",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:21:46.753176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANGPT2 was added\ngene: ANGPT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ANGPT2 were set to 34876502; 32908006\nPhenotypes for gene: ANGPT2 were set to Hydrops; Lymphatic malformation-10, MIM#619369\nReview for gene: ANGPT2 was set to GREEN\nAdded comment: Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006\r\n\r\nBi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents. \nSources: Literature",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:19:44.582874+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.168",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD17B4 were set to 27790638; 32904102\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400\nReview for gene: HSD17B4 was set to GREEN\nAdded comment: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.\r\n\r\nPolymicrogyria has been reported with DBP deficiency (PMID 32904102) \nSources: Literature",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:14:55.004272+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAMT were set to 19027335",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:14:30.975919+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAMT as Green List (high evidence)",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:14:30.964413+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:14:16.415580+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19027335, 33996490, 12557293, 19288536, 16855203; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:09:29.712821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BET1 as ready",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:09:29.701694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bet1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:07:55.467004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BET1 as Amber List (moderate evidence)",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:07:55.457579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bet1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:07:35.392620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BET1 was added\ngene: BET1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BET1 were set to 34779586\nPhenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy\nReview for gene: BET1 was set to AMBER\nAdded comment: Three individuals from 2 unrelated families reported. \nSources: Literature",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:06:03.735644+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BET1 as ready",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:06:03.722025+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bet1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:05:58.606991+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BET1 as Amber List (moderate evidence)",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:05:58.582109+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bet1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:05:12.967578+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BET1 was added\ngene: BET1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BET1 were set to 34779586\nPhenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy\nReview for gene: BET1 was set to AMBER\nAdded comment: Three individuals from 2 unrelated families reported. \nSources: Literature",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:04:32.233772+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BET1 as ready",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:04:32.222503+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bet1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:03:46.970071+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BET1 as Amber List (moderate evidence)",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:03:46.959656+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bet1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T14:03:19.565204+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BET1 was added\ngene: BET1 was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BET1 were set to 34779586\nPhenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy\nReview for gene: BET1 was set to AMBER\nAdded comment: Three individuals from 2 unrelated families reported. \nSources: Literature",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:54:07.369570+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive MIM#614487 to Spastic ataxia 5, autosomal recessive MIM#614487; Early-onset dystonia",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:53:47.402067+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to 22964162; 16541453",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:53:31.781686+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:53:16.728818+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 32219868; Phenotypes: Early-onset dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:37:04.174543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762, 31132363, 25271157, 20126265; Phenotypes: Hydrops fetalis and multiple fetal anomalies, polyneuropathy, erythromelalgia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:34:55.731661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10749",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762; Phenotypes: Hydrops fetalis and multiple fetal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:14:50.050071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:10:00.877732+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.168",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:09:28.663057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2710",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2022-01-24T13:09:24.538446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10749",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:59:47.645962+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF2 as ready",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:59:47.622453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf2 has been classified as Green List (High Evidence).",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:59:44.111271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF2 were changed from BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME to Growth restriction, severe, with distinctive facies, MIM#616489",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:59:26.655322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF2 were set to ",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:59:09.595681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: SRS phenotype, not associated with significant ID.; to: SRS phenotype.",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:58:58.265952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGF2: Changed rating: GREEN",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:57:39.187971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:57:39.177919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:57:34.253403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1R were changed from INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO to Insulin-like growth factor I, resistance to, MIM# 270450",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:57:21.902749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1R were set to ",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:56:40.069149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:56:40.058308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:56:35.925557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:56:20.856008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1 were set to ",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:56:09.662231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:55:37.162663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT80 as ready",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:55:37.152114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift80 has been classified as Green List (High Evidence).",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:55:30.977340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT80 were changed from ASPHYXIATING THORACIC DYSTROPHY 2 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2022-01-24T12:55:20.195940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT80 were set to ",
"entity_name": "IFT80",
"entity_type": "gene"
}
]
}