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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=995",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=993",
"results": [
{
"created": "2022-02-15T11:42:45.885280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFYVE26 as ready",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:42:45.873632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve26 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:42:38.148452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFYVE26 were changed from to Spastic paraplegia 15, autosomal recessive MIM#270700",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:42:18.892658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to ",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:41:55.059314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZFYVE26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:41:14.150236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:41:14.138205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Red List (Low Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:40:41.906205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from LEIGH SYNDROME; COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110)",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:40:23.629290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:39:41.737556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZDHHC9 as ready",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:39:41.727723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:39:37.731686+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC9 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED to Mental retardation, X-linked syndromic, Raymond type, MIM# 300799",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:39:20.452569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZDHHC9 as Amber List (moderate evidence)",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:39:20.440077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:39:05.541698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Raymond type, MIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:37:19.249601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZDHHC9 as ready",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:37:19.240040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc9 has been classified as Green List (High Evidence).",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:37:10.135989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC9 were changed from to Mental retardation, X-linked syndromic, Raymond type MIM# 300799",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:35:42.205359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZDHHC9 were set to ",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:35:20.706715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZDHHC9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:34:07.496582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:34:07.485934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Red List (Low Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:34:00.716528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP1 were changed from ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 to Developmental and epileptic encephalopathy 4 (MIM#612164)",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:33:44.501360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP1 were set to ",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:33:31.460607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:33:06.594727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4 (MIM#612164); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:31:10.912830+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPC as ready",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:31:10.900107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpc has been classified as Red List (Low Evidence).",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:31:05.720765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPC were changed from XERODERMA PIGMENTOSUM, GROUP C to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:30:51.832173+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XPC were set to ",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:30:10.703288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:30:10.686492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Red List (Low Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:30:07.292076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45 were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2022-02-15T11:29:54.125678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to ",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2022-02-15T09:59:23.621938+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3413",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: COQ7 was added\ngene: COQ7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ7 were set to 33215859; 28125198; 31240163; 28409910; 26084283\nPhenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 - MIM#616733\nReview for gene: COQ7 was set to GREEN\nAdded comment: Biallelic variants associated with primary coenzyme Q10 (CoQ10) deficiency, a heterogeneous multi-system disorder including early-postnatal features such as neonatal encephalopathy, contractures. Antenatal features reported include IUGR, oligohydramnios, feetal lung hypoplasia, dysplastic kidneys.\r\n\r\nSpecifically for COQ7-related CoQ10 deficiency:\r\n\r\nPMID 33215859 Hashemi et al 2020 - report two affected individuals from a consanguineous Iranian family with homozygous COQ7 variants progressive spastic paraparesis diagnosed at age 1.5-2 with normal antenatal history.\r\n\r\nPMID 31240163 Kwong et al 2019 - report a patient with compound hetereozygous COQ7 variants, encephalo‐myo‐nephro‐cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death. Skin fibroblast studies showed decreased combined complex II + III activity and reduction in CoQ10 level. The proband was a DCDA twin, noted to have IUGR, oligohydramnios, cardiomegaly and tricuspid regurgitation antenatally. \r\n\r\nPMID 28409910 Wang et al 2017 - no antenatal features reported in their proband\r\n\r\nPMID 26084283 Freyer et al 2015 - report x1 patient with homozygous COQ7 variant. The pregnancy was complicated by oligohydramniosis, fetal lung hypoplasia and growth retardation. \nSources: Literature",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:18:26.814570+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM173 were set to 27613991; 32398023",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:17:18.206003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN5 as ready",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:17:18.194236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn5 has been classified as Red List (Low Evidence).",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:17:10.803556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:16:32.635914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN2 as ready",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:16:32.626340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Red List (Low Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:16:28.995699+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN2 were changed from Infantile ataxia with oculomotor and pyramidal signs; SCA14; Spinocerebellar ataxia, autosomal recessive 14, 615386 to Spinocerebellar ataxia 5 (MIM#600224); Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386)",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:16:14.395906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN2 were set to 28636205; 29196973",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:15:55.952628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:15:27.640239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAL1 as ready",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:15:27.631437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:15:24.110842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia (MIM#242900)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:15:11.040541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCAL1 were set to ",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:14:58.940891+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCAL1 as Green List (high evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:14:58.931133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:14:16.507096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP110 as ready",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:14:16.495214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp110 has been classified as Red List (Low Evidence).",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:14:11.245213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SP110 were set to ",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:07:25.410495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:07:25.398726+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:07:21.589559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A8 were changed from X-LINKED CREATINE DEFICIENCY SYNDROME to Cerebral creatine deficiency syndrome 1 (MIM#300352)",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:07:08.588239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A8 were set to ",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:06:56.905949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A8 as Amber List (moderate evidence)",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:06:56.896784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:06:27.188958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A3 as ready",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:06:27.171822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:06:23.377187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC52A3 were changed from BROWN-VIALETTO-VAN LAERE SYNDROME to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2022-02-14T19:06:12.401634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC52A3 were set to ",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2022-02-14T18:21:55.052661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CDX2 was added\ngene: CDX2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDX2 were set to 29177441\nPhenotypes for gene: CDX2 were set to Persistent cloaca\nReview for gene: CDX2 was set to AMBER\nAdded comment: De novo heterozygous variants detected in 2 patients with persistent cloaca. This condition. can rarely be detected antenatally. \nSources: Literature",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-14T18:01:26.256881+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TLK2 was added\ngene: TLK2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: TLK2 were set to 29861108; 31558842; 34821460\nPhenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57 - MIM#618050\nReview for gene: TLK2 was set to GREEN\nAdded comment: Associated with syndromic ID. Potential to detect reported phenotypic features of microcephaly, IUGR, craniosynostosis (rare) antenatally. \nSources: Literature",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2022-02-14T17:49:16.838482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: STAT3 was added\ngene: STAT3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT3 were set to 30617622; 31771449; 34366294\nPhenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome - MIM#147060; Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952\nAdded comment: Well known association with Hyper IgE syndrome and multisystem autoimmune disease. Early post-natal diagnosis reported. Prenatally detectable features include craniosynostosis and IUGR. \r\n\r\n31771449 Terry et al 2020 report a baby with a de novo heterozygous likely pathogenic STAT3 variant. Severe IUGR and oligohydramnios was noted on USS at 21 weeks gestation. \nSources: Literature",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-02-14T17:31:08.917851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: RNU12 was added\ngene: RNU12 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU12 were set to 34085356\nPhenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations\nReview for gene: RNU12 was set to GREEN\nAdded comment: No new publications since last PanelApp review July 2021\r\n\r\n---\r\n\r\n5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. \nSources: Literature",
"entity_name": "RNU12",
"entity_type": "gene"
},
{
"created": "2022-02-14T17:25:45.341467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PJA1 was added\ngene: PJA1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PJA1 were set to 32530565\nPhenotypes for gene: PJA1 were set to Trigonocephaly, intellectual disability\nReview for gene: PJA1 was set to AMBER\nAdded comment: No new publications since last PanelApp review August 2020\r\n\r\n--\r\n\r\nRecurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. \nSources: Literature",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2022-02-14T17:22:58.212377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PHEX was added\ngene: PHEX was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PHEX 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 gene: PHEX were set to 29791829; 16055933; 19219621; 9106524\nPhenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant - MIM#307800\nReview for gene: PHEX was set to GREEN\nAdded comment: Well-known association with hypophosphataemic rickets with some phenotypic features potentially detectable antenatally (skeletal, craniosynostosis). Early therapeutic interventions available. \nSources: Literature",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-02-14T17:08:50.352146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE - MIM#619451\nReview for gene: LTBP1 was set to GREEN\nAdded comment: Homozygous premature truncating LTBP1 variants in eight affected individuals from four unrelated consanguineous families reported associated with autosomal recessive cutis laxa type IIE. Phenotypic features relevant in the prenatal setting include:\r\n- Congenital diaphragmatic hernia (1 individual)\r\n- Cleft palate (2 individuals)\r\n- Congenital heart defects\r\n- Renal anomalies (1 individual)\r\n- Microretrognathia (1 individual)\r\n- Hydrocephalus (1 individual)\r\n- Skeletal anomalies (craniosynostosis, short stature, brachydactyly, and syndactyly). \r\n\r\nSupportive patient-derived fibroblast and zebrafish studies. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2022-02-14T16:58:04.029412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EFNA4 was added\ngene: EFNA4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EFNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFNA4 were set to 29215649; 29168297; 16540516\nPhenotypes for gene: EFNA4 were set to Craniosynostosis\nReview for gene: EFNA4 was set to AMBER\nAdded comment: PMID 29215649 Lee et al 2018 - Cohort of 309 individuals with craniosynostosis tested with a 20-gene panel. Report 1 individual with unicoronal CS with a likely pathogenic EFNA4 variant.\r\n\r\nPMID 29168297 Clarke et al 2018 - Study enrolled 397 probands with single suture CS. Report one maternally inherited EFNA4 VUS NM_005227.2:c.550C>T; p.(Leu184Phe) with metopic CS, x1 het in gnomad (v2), variant predicted to escape NMD, not reported in ClinVar/Decipher.\r\n\r\nPMID 16540516 Merrill et al 2006 - Tested 81 patients with non-syndromic coronal CS. 3 heterozygous EFNA4 variants detected - x2 missense variants:\r\n- c.178C>T p.H60Y -- 361 hets gnomad\r\n- c.349 C>A p.P117T - 337 hets \r\n- novel frameshift delin 471_472delCCinsA. \r\n\r\nAll 3 variants inherited from unaffected parent. Functional studies on fibroblast cells from the proband with the frameshift delin variant demonstrated an alternatively spliced minor isoform of EFNA4. \nSources: Literature",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-02-14T16:31:53.891689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: DHH: Changed rating: RED",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-02-14T16:31:43.037237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DHH: Rating: ; Mode of pathogenicity: None; Publications: 31018998, 29471294, 11017805; Phenotypes: 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-02-14T16:22:36.952130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: RED; Mode of pathogenicity: None; Publications: 23542697, 23542701, 24814846, 24585383, 26505888, 27173016, 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-02-14T16:11:10.487502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033, MONDO:0014018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-02-14T16:06:11.659249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2022-02-14T15:54:53.078208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DDC: Rating: RED; Mode of pathogenicity: None; Publications: 20505134, 33528536, 30799092, 33996177; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM#608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-02-14T15:51:04.501273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:58:36.474774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: 21840926; Phenotypes: {Neural tube defects, susceptibility to} MIM#182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:58:15.747001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10953",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FUZ was added\ngene: FUZ was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FUZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FUZ were set to 21840926\nPhenotypes for gene: FUZ were set to {Neural tube defects, susceptibility to}\tMIM#182940\nPenetrance for gene: FUZ were set to unknown\nReview for gene: FUZ was set to RED\ngene: FUZ was marked as current diagnostic\nAdded comment: Spina bifida cohort. Negative for VANGL1 and VANGL2, only FUZ was sequenced.\r\nVariants identified in 5 individuals.\r\nArg404Gln (39 hets in gnomAD) and Asp354Tyr (6 hets in gnomAD). These variants are listed as risk factor in ClinVar\r\nPro39Ser (absent in gnomAD) was de novo by parental sanger and showed reduced cell mobility on scratch assays.\r\n\r\n2 other variants Gly140Glu and Ser142Thr were deemed non-causative due to poor in silicos and conservation\r\n\r\nFinally, hom KO mouse models were done to prove neural tube defects \nSources: Literature",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:57:18.203639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DBT: Rating: RED; Mode of pathogenicity: None; Publications: 9239422, 10915611, 20570198; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:47:18.463187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: DARS2: Set current diagnostic: yes",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:47:11.665541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019, 30352563; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:39:53.802807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: TTC19: Rating: RED; Mode of pathogenicity: None; Publications: 23532514, 24368687; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:31:39.859545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CYP19A1: Rating: RED; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP19A1",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:26:41.541416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 19921645, 28306229, 28306225, 23620400; Phenotypes: Vesicoureteral reflux 8 (MIM#615963), Ehlers-Danlos syndrome, classic-like, 1 (MIM#606408); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:25:47.268823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FTSJ1: Rating: RED; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: 15342698, 18081026, 15162322, 26310293; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:25:15.084084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10953",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: Intellectual developmental disorder, X-linked 9 MIM#309549; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:18:18.693788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOCD as ready",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:18:18.683624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:18:15.123704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOCD as Green List (high evidence)",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:18:15.111487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myocd has been classified as Green List (High Evidence).",
"entity_name": "MYOCD",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:17:47.511267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO9A as ready",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:17:47.500487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:17:40.361437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Green List (high evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:17:40.351040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:17:28.884276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:16:25.242072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYMK as ready",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:16:25.229478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Red List (Low Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-02-14T14:16:18.044541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYMK as Red List (low evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
}
]
}