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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=634",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=632",
"results": [
{
"created": "2023-03-05T17:24:14.834473+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD247 was added\ngene: CD247 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD247 were set to 16672702; 17170122\nPhenotypes for gene: CD247 were set to Immunodeficiency 25, MIM# 610163\nReview for gene: CD247 was set to GREEN\nAdded comment: Two reports in the literature, note additional two reports in ClinVar; functional data.\r\n\r\nCongenital onset. Absent T cells, resulting in severe immunodeficiency.\r\n\r\nTreatment: bone marrow transplant.\r\n\r\nNon-genetic confirmatory testing: T, B and NK cell counts \nSources: Expert Review",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:20:41.533522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD19 as ready",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:20:41.522975+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd19 has been classified as Green List (High Evidence).",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:20:35.492754+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD19.\nTag immunological tag was added to gene: CD19.",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:20:24.637827+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD19 as Green List (high evidence)",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:20:24.616134+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd19 has been classified as Green List (High Evidence).",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:20:13.918393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD19 was added\ngene: CD19 was added to gNBS. Sources: Expert list\nMode of inheritance for gene: CD19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD19 were set to Immunodeficiency, common variable, 3, MIM#\t613493\nReview for gene: CD19 was set to GREEN\nAdded comment: More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.\r\n\r\nOnset is congenital.\r\n\r\nTreatment: IVIG\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels \nSources: Expert list",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:17:48.218989+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV1 as ready",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:17:48.211604+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Green List (High Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:17:43.019573+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAV1 as Green List (high evidence)",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:17:43.011908+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Green List (High Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:17:30.864851+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CAV1.\nTag metabolic tag was added to gene: CAV1.",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:17:18.487020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAV1 was added\ngene: CAV1 was added to gNBS. Sources: Expert list\nMode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAV1 were set to 29704234\nPhenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, MIM#\t612526\nReview for gene: CAV1 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nBi-allelic disease is more severe. Onset is congenital.\r\n\r\nTreatment: metreleptin\r\n\r\nNon-genetic confirmatory testing: leptin levels \nSources: Expert list",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:06:44.682916+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDX1 as ready",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:06:44.674890+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx1 has been classified as Green List (High Evidence).",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:06:39.114698+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDX1 as Green List (high evidence)",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:06:39.094410+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdx1 has been classified as Green List (High Evidence).",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:06:29.997779+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PRDX1.",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:05:46.915948+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNP as ready",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:05:46.905502+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Green List (High Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:05:39.355283+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PNP.\nTag immunological tag was added to gene: PNP.",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:05:29.197798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNP as Green List (high evidence)",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2023-03-05T17:05:29.189639+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Green List (High Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:53:18.931568+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFR as ready",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:53:18.923549+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Red List (Low Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:53:13.745176+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency to Homocystinuria due to MTHFR deficiency MIM#236250",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:53:02.495634+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTHFR were set to ",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:52:52.203989+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFR as Red List (low evidence)",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:52:52.187918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Red List (Low Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:52:23.925231+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:52:23.916649+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:52:20.601651+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCCC2 were changed from 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#\t210210 to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:52:08.900273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCCC2 were set to ",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:51:55.697339+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:50:49.446076+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC1 as ready",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:50:49.431928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:50:45.951538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCCC1 were changed from 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM#\t210200 to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:50:33.585156+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCCC1 were set to ",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:50:08.131004+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCCC1 as Red List (low evidence)",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:50:08.123354+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:49:55.011666+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:48:27.211124+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT1A as ready",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:48:27.199765+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Red List (Low Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:48:17.275746+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAT1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:48:07.178503+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAT1A were changed from Methionine adenosyltransferase deficiency to Methionine adenosyltransferase deficiency MIM#250850",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:47:19.555746+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIAS as ready",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:47:19.546732+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lias has been classified as Red List (Low Evidence).",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:47:14.735609+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIAS were set to PMID: 24334290, 24777537,",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:46:48.537337+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert list was removed from LIAS.\nSource Expert Review was added to LIAS.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:46:10.804852+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "All sources for gene: LIAS were removed",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:46:06.533112+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "All sources for gene: LIAS were removed",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:45:43.219455+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIAS as Red List (low evidence)",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:45:43.209102+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lias has been classified as Red List (Low Evidence).",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:45:12.745738+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPD as ready",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:45:12.731013+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpd has been classified as Red List (Low Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:45:05.915312+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPD were set to ",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:44:43.175078+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type III MIM#276710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:42:06.775362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HIBCH.",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:41:28.831604+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCS2 as ready",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:41:28.823273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:40:52.227882+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGCS2 as Amber List (moderate evidence)",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:40:52.217666+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:40:41.093458+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HMGCS2.\nTag treatable tag was added to gene: HMGCS2.\nTag metabolic tag was added to gene: HMGCS2.",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:40:22.644261+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA synthase-2 deficiency MIM#605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:32:16.855082+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:32:16.843986+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:32:11.425906+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from Neurodegeneration, progressive infantile to 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:31:59.575411+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIBCH were set to ",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:31:39.737496+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HIBCH.\nTag metabolic tag was added to gene: HIBCH.",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:31:24.740476+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIBCH as Green List (high evidence)",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:31:24.729841+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:30:37.822323+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLIS3 as ready",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:30:37.815587+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis3 has been classified as Green List (High Evidence).",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:30:34.116372+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#\t610199 to Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:30:20.326857+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS3 were set to ",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:29:43.515628+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLIS3 as Green List (high evidence)",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:29:43.507662+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis3 has been classified as Green List (High Evidence).",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:29:31.535210+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GLIS3.\nTag endocrine tag was added to gene: GLIS3.",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-05T16:29:19.483710+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2023-03-04T07:39:40.126608+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PRDX1 was added\ngene: PRDX1 was added to gNBS. Sources: Expert list\nMode of inheritance for gene: PRDX1 was set to Other\nPublications for gene: PRDX1 were set to PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424\nPhenotypes for gene: PRDX1 were set to Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400\nReview for gene: PRDX1 was set to GREEN\nAdded comment: Digenic inheritance with mutation in other allele of MMACHC\r\nOn GUARDIAN and Rx genes list \r\n\r\nRecently, three individuals who are double heterozygous for pathogenic variants in MMACHC and PRDX1 have been identified. PRDX1 is a neighboring gene on chromosome 1 transcribed from the reverse strand. Variants identified in PRDX1 located at the intron 5 splice acceptor site caused skipping of exon 6, transcription of antisense MMACHC, and hypermethylation of the MMACHC promoter/exon 1, resulting in no gene expression from that allele [Guéant et al 2018].\r\n\r\nTreatable with cobalamin, carnitine & diet. NB MMACHC is green on our list, on newborn screening. \nSources: Expert list",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2023-03-04T07:25:10.940206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PNP was added\ngene: PNP was added to gNBS. Sources: Expert list\nMode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNP were set to PMID: 35968787, PMID: 35063692, PMID: 30885031, PMID: 1931007, PMID: 28674683\nPhenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179\nReview for gene: PNP was set to GREEN\nAdded comment: Decreased T cell function - SCID immunodeficiency \r\nvariable neurological phenotype \r\nchildhood onset \r\nTreat bone marrow transplant \nSources: Expert list",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2023-03-04T07:15:18.068049+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: MTHFR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34214447; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-03-04T07:06:34.911968+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22642865; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2023-03-04T01:32:41.849553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5182",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: RBSN was added\ngene: RBSN was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBSN were set to 25233840; 29784638; 35652444\nPhenotypes for gene: RBSN were set to intellectual disability, MONDO:0001071\nReview for gene: RBSN was set to GREEN\nAdded comment: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families.\r\n\r\nPMID:25233840 reported a 6.5 year old female patient with a homozygous missense variant c.1273G > A (p.Gly425Arg) and her clinical presentation included intractable seizures, developmental delay, microcephaly, dysostosis, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis.\r\n\r\nPMID:29784638 reported three siblings with homozygous variant c.289G>C (p.Gly97Arg) in RBSN. The proband presented global developmental delay, had complete 46,XY male-to-female sex reversal and died at age 20 months after multiple infections. The other 2 affected siblings underwent unrelated-donor bone marrow or stem cell transplantation at 8 and 6.5 months of age, respectively. Both have severe intellectual disability and are nonambulatory and nonverbal.\r\n\r\nPMID:35652444 reported two unrelated families (three siblings from a family of Iranian descent identified with homozygous variant c.547G>A (p.Gly183Arg) and four members from a family of indigenous Cree descent identified with homozygous variant c.538C>G (p.Arg180Gly)) with overlapping phenotypes including developmental delay, intellectual disability, distal motor axonal neuropathy and facial dysmorphism. \r\n\r\nThis gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2023-03-03T22:37:03.115052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5182",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum).; to: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in zebrafish also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-03T22:01:54.467132+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5182",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: DPYSL2 was added\ngene: DPYSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DPYSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DPYSL2 were set to 27249678; 35861646\nPhenotypes for gene: DPYSL2 were set to intellectual disability, MONDO:0001071; Aplasia/Hypoplasia of the corpus callosum, HP:0007370\nReview for gene: DPYSL2 was set to AMBER\nAdded comment: This gene should be rated AMBER, as it has been associated with intellectual disability (ID) from two unrelated cases displaying monoallelic variants in DPYSL2/ CRMP2, and supported by functional studies. However, the evidence is not sufficient for green rating as there are variants reported in other (but different) genes in the two patients.\r\n\r\nPMID:35861646 reported two cases identified with heterozygous variants (patient1: c.1693C>T (p.Arg565Cys); patient 2: c.42C>A (p.Ser14Arg). These patients had overlapping phenotypes including dysmorphic features, severe global developmental delay and hypoplasia of the corpus callosum. In addition, patient 2 was bed-ridden and could not roll out and had a history of myoclonic seizures and status epilepticus.\r\n\r\nIt should be noted that patient 1 is compound heterozygous for 2 missense variants in the EFCAB5 gene and was hemizygous for a maternally inherited missense variant in the GPKOW gene and patient 2 had 1 de novo missense variant in the COBLL1 gene and was compound heterozygous for 2 missense variants in the POTEF gene. The severity of the phenotypes between the two cases differs significantly and the additional variants may have possibly contributed to this phenotype.\r\n\r\nBrain-specific Crmp2 knockout mice display neuronal development deficits and behavioural impairments associated with hypoplasia of the corpus callosum. In addition, functional studies performed in zebrafish and cell lines that the CRMP2 variants lead to the loss-of-function of CRMP2 protein and can cause intellectual disability. \r\n\r\nThis gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "DPYSL2",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:24:12.808356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GATM.\nTag metabolic tag was added to gene: GATM.",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:24:03.026876+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATM as ready",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:24:03.019701+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatm has been classified as Green List (High Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:23:53.539816+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATM as Green List (high evidence)",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:23:53.529970+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatm has been classified as Green List (High Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:23:41.700435+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301745; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM#612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:05:11.570228+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE1 as ready",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:05:11.556038+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:05:06.956216+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome to Bamforth-Lazarus syndrome MIM# 241850",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:04:54.556967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE1 were set to ",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:04:33.137013+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXE1 as Green List (high evidence)",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:04:33.124977+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:04:22.380207+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FOXE1.\nTag endocrine tag was added to gene: FOXE1.\nTag deafness tag was added to gene: FOXE1.",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2023-03-03T20:03:32.583658+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
}
]
}