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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1236",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1234",
"results": [
{
"created": "2021-08-16T18:26:16.947280+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-08-16T18:25:54.148875+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from Kabuki to Kabuki syndrome 1, MIM# 147920",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-08-16T18:25:02.447757+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-08-16T18:25:02.434389+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-08-16T18:24:50.407810+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:58:18.401705+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDT1 as ready",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:58:18.392579+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:58:16.203643+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome 4, 613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:58:05.043564+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDT1 were set to 21358632",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:57:56.262896+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDT1 as Green List (high evidence)",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:57:56.252357+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:57:46.232785+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:41:02.433553+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:41:02.421553+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:41:00.074537+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from CHARGE syndrome, 214800; CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation to CHARGE syndrome, MIM# 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:40:44.870598+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD7 as Green List (high evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:40:44.860003+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:39:50.278146+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:30:34.076087+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRIP as ready",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:30:34.063814+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:30:32.019059+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Seckel-like syndrome",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2021-08-16T17:30:13.162328+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATRIP: Rating: RED; Mode of pathogenicity: None; Publications: 23144622; Phenotypes: Seckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:36:37.749012+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLK4 as ready",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:36:37.737663+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plk4 has been classified as Green List (High Evidence).",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:36:34.663953+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK4 were changed from microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 to Microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, #MIM:616171",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:36:04.104453+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLK4 as Green List (high evidence)",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:36:04.094060+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plk4 has been classified as Green List (High Evidence).",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:35:54.549466+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-08-16T16:26:42.925122+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-16T15:18:00.767126+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNPC3 as ready",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:18:00.757479+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:17:58.338364+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNPC3 were changed from ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency to Growth hormone deficiency",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:17:02.813276+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29866761, 32462814; Phenotypes: Growth hormone deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:14:48.325062+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:14:41.744948+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1B as ready",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:14:41.734545+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:14:39.495268+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from short stature; Syndromic intellectual disability to Syndromic intellectual disability; short stature",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2021-08-16T15:14:22.113277+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184, 26280580; Phenotypes: Syndromic intellectual disability, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2021-08-16T13:03:24.866505+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC6 as ready",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-08-16T13:03:24.856421+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-08-16T13:03:21.837882+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia; ?Meier-Gorlin syndrome 5, 613805 to Meier-Gorlin syndrome 5 (MIM#613805)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-08-16T13:03:06.340247+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDC6: Rating: RED; Mode of pathogenicity: None; Publications: 21358632; Phenotypes: Meier-Gorlin syndrome 5 (MIM#613805); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:50.842805+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC8 as ready",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:50.834043+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:48.642230+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC8 were changed from Cornelia De Lange to Cornelia de Lange syndrome 5, MIM# 300882",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:38.552882+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC8 were set to ",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:14.439662+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC8 as Green List (high evidence)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:14.427461+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T12:32:05.296116+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:58:15.871009+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRP2: Changed publications: 30877238, 33090377, 29574422, 26323243, 19300480",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:57:52.407310+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP2 as ready",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:57:52.394737+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:57:39.921157+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:57:29.123265+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: IUGR; Mode of inheritance: Other",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:16.304992+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC2 as ready",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:16.294935+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:13.955304+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC2 were changed from FINCA syndrome OMIM:618278 to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:03.123118+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHLRC2 as Green List (high evidence)",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:50:03.112779+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc2 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:49:48.016227+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29423877, 32435055; Phenotypes: Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:46:22.398381+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:46:22.389889+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:46:10.568820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:46:10.559736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:46:02.968931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:45:44.667432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBAS were set to ",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:45:25.990660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:45:05.999865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761904; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800, Infantile liver failure syndrome 2, MIM# 616483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:42:31.922146+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:42:31.912888+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:42:29.751083+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:42:19.355749+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBAS were set to 31761904",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:42:04.991444+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Founder mutation in Yakut population but also reported in other ethnicities. Short stature is a feature.\r\n\r\nNote bi-allelic variants in this gene also cause infantile liver failure syndrome, MIM#616483.; to: Founder mutation in Yakut population but also reported in other ethnicities. Short stature is a feature.\r\n\r\nNote bi-allelic variants in this gene also cause infantile liver failure syndrome, MIM#616483. Clinical features are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:40:59.008281+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:40:58.996211+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:40:50.246899+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 26286438; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:36:15.853131+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:36:15.842182+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:36:11.745796+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:36:11.730792+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:35:58.774386+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32917887; Phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2021-08-16T10:30:44.057143+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA8 as ready",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-16T10:30:44.047545+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca8 has been classified as Green List (High Evidence).",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-16T10:30:39.957112+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA8 as Green List (high evidence)",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-16T10:30:39.944136+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca8 has been classified as Green List (High Evidence).",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-16T10:30:26.243679+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA8 was added\nSTR: SCA8 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA8 were set to 20301445\nPhenotypes for STR: SCA8 were set to Spinocerebellar ataxia 8 MIM#608768\nReview for STR: SCA8 was set to GREEN\nSTR: SCA8 was marked as clinically relevant\nAdded comment: NR_002717.2:n.1073CTA[X]1103CTG[X]\r\nATXN8 (CAG)n(TAG)n vs ATXN8OS on opposite strand (CTA)n(CTG)n\r\nBoth toxic RNA and toxic protein gain of function mechanisms likely contribute to disease mechanism\r\nNormal alleles: 15-50 combined (CTA·TAG)n(CTG·CAG)n repeats\r\nAlleles of questionable significance: 50-70 repeats.\r\nReduced penetrance allele size: found for (CTA·TAG)n(CTG·CAG)n repeats of all sizes\r\nHigher penetrance allele size: ≥80 (CTA·TAG)n(CTG·CAG)n repeats most often seen in individuals with ataxia; however, repeat sizes ranging from 71 to more than 1300 repeats have been found both in individuals who develop ataxia and in those who do not. \nSources: Expert list",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-08-16T10:26:39.496700+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FXPOI as ready",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-16T10:26:39.483721+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxpoi has been classified as Green List (High Evidence).",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-16T10:26:35.648084+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FXPOI as Green List (high evidence)",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-16T10:26:35.634818+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxpoi has been classified as Green List (High Evidence).",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-16T10:26:27.332908+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXPOI was added\nSTR: FXPOI was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FXPOI was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for STR: FXPOI were set to 20301558\nPhenotypes for STR: FXPOI were set to Premature ovarian failure 1 MIM#311360\nReview for STR: FXPOI was set to GREEN\nSTR: FXPOI was marked as clinically relevant\nAdded comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]\r\nRNA-mediated toxicity may result in the POI phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.\r\nIntermediate (grey zone, inconclusive, borderline): ~45 to ~54 repeats\r\nPremutation - risk of FXPOI: ~55 to ~200 repeats\r\nFull mutation - fragile X syndrome (FXS): >200 repeats\r\nIt is estimated that 21% of women who carry a premutation develop FXPOI. The association between repeat size of the premutation allele and FXPOI is nonlinear; women with 80-99 repeats are at greatest risk for FXPOI. \nSources: Expert list",
"entity_name": "FXPOI",
"entity_type": "str"
},
{
"created": "2021-08-16T10:22:56.922104+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: EPM1 as ready",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-16T10:22:56.912261+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: epm1 has been classified as Green List (High Evidence).",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-16T10:22:40.560046+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: EPM1 as Green List (high evidence)",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-16T10:22:40.549368+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: epm1 has been classified as Green List (High Evidence).",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-16T10:22:31.016541+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: EPM1 was added\nSTR: EPM1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: EPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: EPM1 were set to 29325606; 20301321\nPhenotypes for STR: EPM1 were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800\nReview for STR: EPM1 was set to GREEN\nSTR: EPM1 was marked as clinically relevant\nAdded comment: NM_000100.4:c.-179CCCCGCCCCGCG[X]\r\nLoss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME.\r\nNormal: 2-3 dodecamer repeats\r\nUncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized)\r\nPathogenic (full penetrance): ≥30 dodecamer repeats \nSources: Expert list",
"entity_name": "EPM1",
"entity_type": "str"
},
{
"created": "2021-08-16T10:18:58.212056+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FRDA as ready",
"entity_name": "FRDA",
"entity_type": "str"
},
{
"created": "2021-08-16T10:18:58.203144+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: frda has been classified as Green List (High Evidence).",
"entity_name": "FRDA",
"entity_type": "str"
},
{
"created": "2021-08-16T10:18:15.789845+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FRDA as Green List (high evidence)",
"entity_name": "FRDA",
"entity_type": "str"
},
{
"created": "2021-08-16T10:18:15.780028+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: frda has been classified as Green List (High Evidence).",
"entity_name": "FRDA",
"entity_type": "str"
}
]
}