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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=991",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=989",
"results": [
{
"created": "2022-02-16T14:17:07.883858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:35.954362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:35.944378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Red List (Low Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:29.328654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLD were changed from LEIGH SYNDROME; DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY to Dihydrolipoamide dehydrogenase deficiency MIM#246900",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:11.624568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLD were set to ",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:39.049018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT9B as ready",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:39.033337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:30.809977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT9B as Amber List (moderate evidence)",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:30.793419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:33:35.793417+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Combined oxidative phosphorylation deficiency 54, MIM# 619737 to Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:33:14.359380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:32:40.255361+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:32:30.671274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:32:14.342742+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:31:36.993581+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:31:26.962719+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:30:59.326127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:30:34.110412+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM#\t619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:29:51.179922+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:29:07.430951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:28:53.485206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Note gene is referred to as PRORP in the manuscript, but HGNC approved name is KIAA0391.; to: HGNC approved name is now PRORP.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:28:08.275107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM#\t619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T12:54:17.307403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10992",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 3769994, 8506365, 9934985, 17404228, 21558426, 21930696; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T12:52:36.596921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3541",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: 3769994, 8506365, 9934985, 17404228, 21558426, 21930696; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T12:17:03.053990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3541",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: WNT9B was added\ngene: WNT9B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT9B were set to 34145744\nPhenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM #\nReview for gene: WNT9B was set to AMBER\nAdded comment: Now new publications since last PanelApp review Sept 2021\r\n\r\n---\r\n\r\nWNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities.\r\n\r\nLemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance. \nSources: Literature",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T09:40:49.762969+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy to Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2022-02-16T09:40:26.681832+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3B: Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2022-02-16T09:39:46.130779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2022-02-16T09:39:13.787508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3B: Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:19:06.929196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCK as ready",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:19:06.915038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbck has been classified as Green List (High Evidence).",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:19:03.145309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCK were changed from Severe Infantile Syndromic Encephalopathy to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:18:49.910152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCK were set to ",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:18:34.997237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:16:14.955505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBL1XR1 as ready",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:16:14.944418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1xr1 has been classified as Green List (High Evidence).",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:16:02.974272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBL1XR1 were changed from Intellectual disability with autism spectrum disorder; Pierpont syndrome to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:15:48.116079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBL1XR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:15:35.748559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. However, few if any significant congenital anomalies associated.; to: Well established gene-disease associations. However, few if any significant congenital anomalies associated.",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:15:27.665244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:12:11.060527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX15 as ready",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:12:11.050472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx15 has been classified as Green List (High Evidence).",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:12:03.561224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX15 were changed from to Cousin syndrome, MIM# 260660",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:11:43.974867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX15 were set to ",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:11:19.286703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:10:59.860866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068278, 24039145; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:10:17.715340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX15 as ready",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:10:17.700654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx15 has been classified as Green List (High Evidence).",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:10:13.699630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX15 were changed from Cousin Syndrome; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature to Cousin syndrome, MIM# 260660; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:09:59.454609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX15 were set to ",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T20:09:39.556051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068278, 24039145; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:59:03.606733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX18 as ready",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:59:03.580511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx18 has been classified as Green List (High Evidence).",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:58:55.751473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX18 were changed from to Congenital anomalies of kidney and urinary tract 2, MIM# 143400",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:58:36.880605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX18 were set to ",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:58:18.687119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:57:56.635884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:57:47.942195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX18 as ready",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:57:47.931209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx18 has been classified as Green List (High Evidence).",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:57:43.888382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX18 were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 to Congenital anomalies of kidney and urinary tract 2, MIM# 143400",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:57:32.587156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX18 were set to ",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:57:09.966007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX18 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:56:58.617481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:54:31.807801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX20 as ready",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:54:31.796404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Green List (High Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:54:28.152397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX20 were changed from ATRIAL SEPTAL DEFECT TYPE 4 to Atrial septal defect 4, MIM# 611363",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:54:16.413579+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX20 were set to ",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:54:04.838971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:53:47.799695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:49:33.226470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX4 as ready",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:49:33.215494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx4 has been classified as Green List (High Evidence).",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:49:15.585058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX4 were changed from Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome to Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:49:07.438485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:48:47.306228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBX4: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:48:37.185148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 to Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:48:25.387805+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX4 were set to ",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:47:58.578649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:47:46.612645+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23592887, 31151956, 31761294, 31965066; Phenotypes: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360, Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:34:46.579333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF12 as ready",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:34:46.567895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf12 has been classified as Green List (High Evidence).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:34:42.193171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from CORONAL CRANIOSYNOSTOSIS to Craniosynostosis 3, MIM# 615314",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:34:31.279460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF12 were set to ",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:34:21.591936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:34:05.618080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:33:01.403552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX6 as ready",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:33:01.393182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx6 has been classified as Green List (High Evidence).",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:32:19.839105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5 , MIM#122600",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:32:09.517879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX6 were set to ",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:31:56.961174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:30:43.656784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCOF1 as ready",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:30:43.644768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcof1 has been classified as Green List (High Evidence).",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:30:40.071583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCOF1 were changed from TREACHER COLLINS SYNDROME TYPE 1 to Treacher Collins syndrome 1, MIM# 154500",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:30:27.415062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCOF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:30:15.453568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:29:05.480287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGDS as ready",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:29:05.469433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgds has been classified as Green List (High Evidence).",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:28:57.053362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGDS were changed from to Catel-Manzke syndrome, MIM# 616145",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:28:38.661613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGDS were set to ",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:28:20.992507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2022-02-15T18:27:59.869551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome, MIM# 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGDS",
"entity_type": "gene"
}
]
}