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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1607",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1605",
"results": [
{
"created": "2020-09-05T14:09:13.445166+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Green List (High Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:09:05.831043+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:05:51.639009+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:05:51.623886+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:05:48.630369+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:05:36.400496+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARX: Changed publications: 11889467, 15200506",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:04:50.649336+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ARX was changed from to Other",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:04:43.905249+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from Early infantile epileptic encephalopathy; Dystonia to Partington syndrome, MIM# 309510; Dystonia",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T14:04:20.037703+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Partington syndrome, MIM# 309510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:47:33.708623+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:46:59.637392+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:46:22.365042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:45:50.050625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB10: Changed phenotypes: fatal infantile lactic acidosis, cardiomyopathy, Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:44:47.872851+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:44:15.161320+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:43:59.473525+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:43:28.506448+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:43:07.102057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-09-05T11:42:41.700157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:17:55.385345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM10 as ready",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:17:55.374631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Red List (Low Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:17:04.961770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM10 was added\ngene: MCM10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM10 were set to 32865517\nPhenotypes for gene: MCM10 were set to Susceptibility to CMV\nReview for gene: MCM10 was set to RED\nAdded comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV. \nSources: Literature",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:15:42.008519+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM10 as ready",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:15:41.998496+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm10 has been classified as Red List (Low Evidence).",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:15:39.097112+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCM10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:14:57.250412+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM10 was added\ngene: MCM10 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: MCM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MCM10 were set to 32865517\nPhenotypes for gene: MCM10 were set to Susceptibility to CMV\nReview for gene: MCM10 was set to RED\nAdded comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV. \nSources: Literature",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:13:22.865299+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TET2 as ready",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:13:22.857149+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet2 has been classified as Green List (High Evidence).",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:12:58.446890+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TET2 as Green List (high evidence)",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:12:58.436851+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet2 has been classified as Green List (High Evidence).",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:12:30.818552+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TET2 was added\ngene: TET2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: TET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TET2 were set to 32518946\nPhenotypes for gene: TET2 were set to Immune dysregulation; Lymphoma\nReview for gene: TET2 was set to GREEN\nAdded comment: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2. \nSources: Literature",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:10:51.953292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.; to: Mono-allelic variants: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:10:34.100305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution.; to: Mono-allelic variants: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:10:20.986242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.; to: Bi-allelic variants PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:10:05.949563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.; to: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:09:40.468664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Added comment: PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.; Changed rating: GREEN; Changed publications: 30890702, 31827242, 32330418, 32518946; Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:06:33.055894+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:06:33.043368+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:05:20.392469+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:05:00.842711+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:04:36.648695+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASK was changed from Unknown to Other",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:04:09.422635+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 19165920, 21735175; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: Other",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:01:02.263727+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:01:02.234783+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Green List (High Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:00:59.976423+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from to Seckel syndrome 1, MIM# 210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:00:41.516223+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-04T21:00:16.102322+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:59:44.635124+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:46:40.722371+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIF1B was added\ngene: YIF1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nReview for gene: YIF1B was set to GREEN\nAdded comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \nSources: Expert Review",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:39:27.906352+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UGP2: Changed rating: GREEN",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:39:04.324693+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:38:48.323228+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:29:33.558367+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC1I2 was added\ngene: DYNC1I2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC1I2 were set to 31079899\nPhenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492\nReview for gene: DYNC1I2 was set to GREEN\nAdded comment: Five individuals from three unrelated families reported. \nSources: Expert Review",
"entity_name": "DYNC1I2",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:25:08.876229+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:22:57.550967+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNMT3A: Changed rating: GREEN",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:04:24.972631+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:04:24.961991+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:04:11.375946+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:03:44.998282+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXG1 were set to ",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:03:23.954809+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:02:59.476517+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:01:23.656377+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:01:23.644870+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:01:04.942487+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:00:43.280202+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXG1 were set to ",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T20:00:00.954850+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:59:35.085440+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXG1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:59:25.520056+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXG1: Rating: ; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: None",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:56:43.848495+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDXR as ready",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:56:43.837128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Green List (High Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:56:34.165120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:56:16.003805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDXR were set to ",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:55:58.744923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:55:37.928620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FDXR: Added comment: Four families reported with bi-allelic variants in FDXR causing an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe progressive neurological phenotype. Mouse model exhibits neurodegeneration.; Changed rating: GREEN; Changed publications: 30250212, 28965846",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:53:29.272830+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDXR as ready",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:53:29.261464+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Amber List (Moderate Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:53:26.811355+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:53:03.986838+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDXR were set to ",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:52:33.139317+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:52:10.860629+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FDXR as Amber List (moderate evidence)",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:52:10.850774+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Amber List (Moderate Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:51:40.918338+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FDXR: Rating: AMBER; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:49:29.048337+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDXR were set to ",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:48:48.437702+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Bi-allelic variants in FDXR cause an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe phenotype, including one with intellectual disability.",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:47:56.571657+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FDXR: Changed publications: 30250212",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:46:26.780164+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDXR as ready",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:46:26.769222+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Red List (Low Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:46:17.049315+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:45:53.207223+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FDXR were set to ",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:45:23.628924+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:07:51.977650+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FDXR as Red List (low evidence)",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:07:51.968934+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Red List (Low Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:07:29.185114+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:01:44.200735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOC7 as ready",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:01:44.192299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc7 has been classified as Green List (High Evidence).",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:01:36.353579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOC7 as Green List (high evidence)",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-04T19:01:36.343321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exoc7 has been classified as Green List (High Evidence).",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:58:17.123772+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:58:17.115171+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:58:12.221621+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
}
]
}