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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1160",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1158",
"results": [
{
"created": "2021-10-25T11:58:44.674177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9455",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: XBP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32294597, 33325615; Phenotypes: ; Mode of inheritance: None",
"entity_name": "XBP1",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:36:13.675972+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.11",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F MIM#615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:34:34.781778+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: LRIT3: Changed publications: 23246293, 27428514",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:32:20.267999+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 2x unrelated families, no nystagmus reported; to: PMID:27428514;\r\n2x unrelated families, no nystagmus reported\r\n\r\nPMID:27428514;\r\n1x with Schubert-Bornschein congenital stationary night blindness. Diagnostic criteria includes nystagmus though age of onset not specified",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:23:22.086407+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: None; Publications: 23246293; Phenotypes: Night blindness, congenital stationary (complete), 1F MIM#615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:17:13.278982+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:11:27.591563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FRMD7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-25T11:10:34.165739+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD7 as ready",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:10:34.157450+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd7 has been classified as Green List (High Evidence).",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:10:31.664984+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRMD7 were changed from Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 to Nystagmus 1, congenital, X-linked, MIM# 310700; Nystagmus, infantile periodic alternating, X-linked, MIM# 310700",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:10:11.175439+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FRMD7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:10:02.047590+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17013395, 17962394, 21303855; Phenotypes: Nystagmus 1, congenital, X-linked, MIM# 310700, Nystagmus, infantile periodic alternating, X-linked, MIM# 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:08:17.658421+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRX as ready",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:08:17.649450+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crx has been classified as Green List (High Evidence).",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:08:15.480981+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:08:08.721753+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRX were set to ",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:08:02.277378+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:07:52.193697+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12208271, 9931337, 9537410, 29568065, 27427859, 25270190; Phenotypes: Leber congenital amaurosis 7, MIM# 613829; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:03:44.785296+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB1 as ready",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:03:44.776274+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb1 has been classified as Green List (High Evidence).",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:03:42.873363+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRB1 were changed from to Leber congenital amaurosis 8, MIM# 613835",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:03:35.822013+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB1 were set to ",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:03:23.693649+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRB1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-25T11:03:14.762169+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8, MIM# 613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:43:19.546010+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485; Phenotypes: Leber congenital amaurosis 16 MIM#614186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T09:29:14.777724+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.23",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IMPDH1: Rating: RED; Mode of pathogenicity: None; Publications: 16384941; Phenotypes: Leber congenital amaurosis 11 MIM#613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:58:51.113564+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:58:21.219323+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DEF6 were set to 31308374",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:57:45.222021+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEF6 as Green List (high evidence)",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:57:45.212554+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Green List (High Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:57:15.454621+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DEF6: Added comment: Additional family reported with 4 affected siblings.; Changed rating: GREEN; Changed publications: 31308374, 32562707; Changed phenotypes: Immunodeficiency 87 and autoimmunity, MIM# 619573, Systemic autoimmunity",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:56:35.969459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:56:13.594912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DEF6 were set to 31308374",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:55:18.203538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DEF6 as Green List (high evidence)",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:55:18.194137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: def6 has been classified as Green List (High Evidence).",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T08:55:00.146015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DEF6: Added comment: Additional family reported with 4 affected siblings.; Changed rating: GREEN; Changed publications: 31308374, 32562707; Changed phenotypes: Immunodeficiency 87 and autoimmunity, MIM# 619573, Systemic autoimmunity",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:03:28.951277+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD9 as ready",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:03:28.941639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Green List (High Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:03:23.736929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAD9 were changed from ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:03:04.437603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:01:33.541989+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABHD5 were set to ",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:01:22.771904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABHD5: Changed publications: 30795549",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:00:35.278677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD5 as ready",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:00:35.267903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:00:31.893444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD5 were changed from CHANARIN-DORFMAN SYNDROME to Chanarin-Dorfman syndrome, MIM# 275630",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:00:14.572251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABHD5 as Amber List (moderate evidence)",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:00:14.560115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T21:00:03.730879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, MIM# 275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:30:29.792934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC9 as ready",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:30:29.782991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Green List (High Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:30:25.889864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC9 were changed from CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA to Hypertrichotic osteochondrodysplasia, MIM# 239850",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:30:13.301988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:30:01.574441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:29:03.366615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:29:03.356494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:28:59.887853+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 to Arterial calcification, generalized, of infancy, 2, MIM# 614473",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:28:44.285718+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:27:54.209859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA12 as ready",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:27:54.201051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca12 has been classified as Green List (High Evidence).",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:27:47.948559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive 242500 to Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:27:29.442152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:26:22.631111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:26:22.622426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aaas has been classified as Red List (Low Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:26:16.661933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AAAS as Red List (low evidence)",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:26:16.652985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aaas has been classified as Red List (Low Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:24:58.710107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:05.773190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF711 was added\ngene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:05.163672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF3 was added\ngene: ZNF3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF3 were set to 32732226\nPhenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft",
"entity_name": "ZNF3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:04.349530+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:03.457002+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:02.765153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPC was added\ngene: XPC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:01.878379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPA was added\ngene: XPA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:05:00.865883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR91 was added\ngene: WDR91 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR91 were set to 32732226; 34028500; 28860274\nPhenotypes for gene: WDR91 were set to Hydrocephaly; Hygroma",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:59.765928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:58.956305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR11 was added\ngene: WDR11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WDR11 were set to KALLMANN SYNDROME",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:58.146341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WASHC5 was added\ngene: WASHC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WASHC5 were set to Ritscher-Schinzel syndrome 1 220210; Spastic paraplegia 8, autosomal dominant 603563",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:57.470907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAC was added\ngene: WAC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WAC were set to INTELLECTUAL DISABILITY; WAC syndrome",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:56.670939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UVSSA was added\ngene: UVSSA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME",
"entity_name": "UVSSA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:55.855815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USB1 was added\ngene: USB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USB1 were set to Poikiloderma with neutropenia",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:55.251615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UROC1 was added\ngene: UROC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY",
"entity_name": "UROC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:54.365033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UPF3B was added\ngene: UPF3B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:53.757604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC80 was added\ngene: UNC80 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:52.870117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:52.056126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UFM1 was added\ngene: UFM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFM1 were set to 29868776\nPhenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly,",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:51.451897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UFC1 was added\ngene: UFC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:50.571660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE3A was added\ngene: UBE3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: UBE3A were set to ANGELMAN SYNDROME",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:49.761024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2A was added\ngene: UBE2A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:49.161296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:48.358534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYRP1 was added\ngene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:47.549131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYR was added\ngene: TYR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:46.884922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUSC3 was added\ngene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:46.056978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC19 was added\ngene: TTC19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:45.456665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPAN7 was added\ngene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:44.567682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TSHR were set to HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:43.752729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHB was added\ngene: TSHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:43.066273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM1 was added\ngene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:42.255436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC2 was added\ngene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:41.372927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:40.767517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:04:39.961627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TNXB were set to Vesicoureteral reflux 8 615963; Ehlers-Danlos syndrome due to tenascin X deficiency 606408",
"entity_name": "TNXB",
"entity_type": "gene"
}
]
}