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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=694",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=692",
"results": [
{
"created": "2022-11-16T17:50:27.476452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:50:12.025304+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDAR as Red List (low evidence)",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:50:12.015371+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edar has been classified as Red List (Low Evidence).",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:50:00.627548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:49:05.441746+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDA as ready",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:49:05.430686+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eda has been classified as Red List (Low Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:48:57.939231+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:48:37.487130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDA as Red List (low evidence)",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:48:37.477666+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eda has been classified as Red List (Low Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:48:25.720254+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:47:08.561763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYSF as ready",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:47:08.552511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dysf has been classified as Red List (Low Evidence).",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:47:04.924932+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:46:50.829996+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYSF as Red List (low evidence)",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:46:50.817565+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dysf has been classified as Red List (Low Evidence).",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:46:39.324973+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, autosomal recessive 2 253601, Myopathy, distal, with anterior tibial onset 606768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:43:09.735301+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUOXA2 as ready",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:43:09.726112+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duoxa2 has been classified as Green List (High Evidence).",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:43:03.290811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DUOXA2.",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:42:52.751914+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:44:46.540218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN5 as Red List (low evidence)",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:44:46.532640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn5 has been classified as Red List (Low Evidence).",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:44:27.458218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTBN5: Added comment: Some of the missense variants are present at high population frequencies, not compatible with Mendelian disease. Gene is tolerant of LoF in gnomad, raising questions about the pathogenicity of the LoF variant.\r\nCommentaries questioning gene-disease relationship PMID: 36117916; 36238261; Changed rating: RED",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:43:01.358196+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN5 were set to 35782384",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:42:30.456804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SPTBN5.",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:42:21.394537+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN5 as Red List (low evidence)",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:42:21.385584+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn5 has been classified as Red List (Low Evidence).",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:41:45.328983+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related; Mode of inheritance: None",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:32:36.922629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTSS1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:32:18.452811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTSS1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:31:57.475417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTSS1 as ready",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:31:57.466589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1 has been classified as Green List (High Evidence).",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:31:29.919482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTSS1 as Green List (high evidence)",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:31:29.910647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1 has been classified as Green List (High Evidence).",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:30:39.841163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTSS1 was added\ngene: MTSS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MTSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTSS1 were set to 36067766\nPhenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)\nReview for gene: MTSS1 was set to GREEN\nAdded comment: Five individuals with the same heterozygous de novo variant in MTSS2 (NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing.\r\n\r\nThe individuals presented with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms.\r\n\r\nImmunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies. \nSources: Literature",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:28:15.849746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTSS1 as ready",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:28:15.836567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1 has been classified as Green List (High Evidence).",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:28:10.087014+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTSS1 as Green List (high evidence)",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:28:10.078839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1 has been classified as Green List (High Evidence).",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:27:28.117552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36067766; Phenotypes: Intellectual disability, MTSS1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:26:37.498251+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPR as ready",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:26:37.489033+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpr has been classified as Red List (Low Evidence).",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:26:26.175988+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPR was added\ngene: TPR was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPR were set to 34494102\nPhenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related\nReview for gene: TPR was set to RED\nAdded comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution. \nSources: Literature",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:26:08.072091+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPR as ready",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:26:08.061954+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpr has been classified as Red List (Low Evidence).",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:25:22.329997+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPR was added\ngene: TPR was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPR were set to 34494102\nPhenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related\nReview for gene: TPR was set to RED\nAdded comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution. \nSources: Literature",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:24:55.007861+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPR as ready",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:24:54.986347+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpr has been classified as Red List (Low Evidence).",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:23:52.010277+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPR was added\ngene: TPR was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TPR were set to 34494102\nPhenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related\nReview for gene: TPR was set to RED\nAdded comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution. \nSources: Literature",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:21:41.498614+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTSS1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:21:35.049510+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTSS1 as ready",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:21:35.038645+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1 has been classified as Green List (High Evidence).",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:21:29.745562+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTSS1 as Green List (high evidence)",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:21:29.728605+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1 has been classified as Green List (High Evidence).",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:20:58.080284+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTSS1: Added comment: Five individuals with the same heterozygous de novo variant in MTSS2 (NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing.\r\n\r\nThe individuals presented with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms.\r\n\r\nImmunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies.; Changed rating: GREEN",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:19:17.492146+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MTSS1: Changed phenotypes: Intellectual disability, MTSS1-related (MONDO#0001071)",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:18:59.470652+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTSS1: Rating: RED; Mode of pathogenicity: None; Publications: 36067766; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MTSS1",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:17:13.901131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPR were changed from intellectual disability, MONDO:0001071; cerebellar ataxia, MONDO:0000437; microcephaly, MONDO:0001149 to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:16:45.689220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:16:11.073986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPR as ready",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:16:11.061631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpr has been classified as Red List (Low Evidence).",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:16:01.014281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPR as Red List (low evidence)",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:16:01.006556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpr has been classified as Red List (Low Evidence).",
"entity_name": "TPR",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:08:02.745412+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green. \nSources: Literature; to: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.\r\n\r\nIncreased chromosome breakage is a feature.\r\nSources: Literature",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:07:30.670619+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC5 as ready",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:07:30.662052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:07:25.347581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC5 as Green List (high evidence)",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:07:25.338050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:04:12.213628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC5 was added\ngene: SMC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMC5 were set to 36333305\nPhenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SMC5 was set to GREEN\nAdded comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green. \nSources: Literature",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:02:29.014716+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC5 as ready",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:02:28.987256+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:02:14.487993+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC5 as Green List (high evidence)",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:02:14.479797+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:02:05.312616+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC5 was added\ngene: SMC5 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMC5 were set to 36333305\nPhenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SMC5 was set to GREEN\nAdded comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green. \nSources: Literature",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:01:03.369087+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC5 as ready",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:01:03.349026+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:00:57.554873+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC5 as Green List (high evidence)",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:00:57.546778+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T13:00:13.248535+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC5 was added\ngene: SMC5 was added to Chromosome Breakage Disorders. Sources: Literature\nMode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMC5 were set to 36333305\nPhenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SMC5 was set to GREEN\nAdded comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green. \nSources: Literature",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:50:27.835649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC5 as ready",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:50:27.819305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:50:17.842618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC5 as Green List (high evidence)",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:50:17.834167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:49:53.757663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC5 was added\ngene: SMC5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMC5 were set to 36333305\nPhenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SMC5 was set to GREEN\nAdded comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green \nSources: Literature",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:47:27.251691+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC5 as ready",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:47:27.236239+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:47:22.625430+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC5 as Green List (high evidence)",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:47:22.616399+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc5 has been classified as Green List (High Evidence).",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:46:51.381541+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC5 was added\ngene: SMC5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMC5 were set to 36333305\nPhenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SMC5 was set to GREEN\nAdded comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green. \nSources: Literature",
"entity_name": "SMC5",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:43:27.519447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLF2 as ready",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:43:27.493632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slf2 has been classified as Green List (High Evidence).",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:43:16.661137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLF2 as Green List (high evidence)",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:43:16.651903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slf2 has been classified as Green List (High Evidence).",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:42:53.136429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLF2 was added\ngene: SLF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLF2 were set to 36333305\nPhenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SLF2 was set to GREEN\nAdded comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model. \nSources: Literature",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:41:14.872795+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLF2 as ready",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:41:14.864355+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slf2 has been classified as Green List (High Evidence).",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:40:49.144004+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLF2 as Green List (high evidence)",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:40:49.135778+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slf2 has been classified as Green List (High Evidence).",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:38:11.344735+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLF2 was added\ngene: SLF2 was added to Chromosome Breakage Disorders. Sources: Literature\nMode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLF2 were set to 36333305\nPhenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID\nReview for gene: SLF2 was set to GREEN\nAdded comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.\r\n\r\nIncreased chromosome breakage is a feature of this disorder. \nSources: Literature",
"entity_name": "SLF2",
"entity_type": "gene"
},
{
"created": "2022-11-16T12:36:27.157856+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLF2 as ready",
"entity_name": "SLF2",
"entity_type": "gene"
}
]
}