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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1110",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1108",
"results": [
{
"created": "2021-11-30T13:35:29.583438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl3 has been classified as Green List (High Evidence).",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:35:25.819081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL3 were changed from VAN DER WOUDE SYNDROME to Van der Woude syndrome 2 MIM#606713",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:35:14.516102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHL3 were set to ",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:35:04.275417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRHL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:34:23.951294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNS as ready",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:34:23.940524+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gns has been classified as Green List (High Evidence).",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:34:20.156133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:33:57.155906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNS were set to ",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:33:03.987642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTAB as ready",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:33:03.971160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Green List (High Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:32:56.085551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:32:37.172682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPTAB were set to ",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:32:14.195071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:31:54.683557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:58.546813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTAB as ready",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:58.533029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Green List (High Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:35.561163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTAB were changed from MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II to Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:22.842032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPTAB were set to ",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:29:38.907423+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN11A as ready",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:29:38.895197+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Green List (High Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:29:36.683065+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN11A were changed from Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Episodic pain syndrome, familial, 3, MIM# 615552",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:29:16.977794+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:28:59.280983+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN11A was changed from to Other",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:28:46.027745+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic pain syndrome, familial, 3, MIM# 615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:28:09.391238+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:27:27.495461+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMMECR1 as ready",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:27:27.482605+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Green List (High Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:27:22.204702+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMMECR1 as Green List (high evidence)",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:27:22.194534+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Green List (High Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:27:08.790535+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMMECR1 was added\ngene: AMMECR1 was added to Red cell disorders. Sources: Expert Review\nMode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AMMECR1 were set to 27811305; 28089922; 29193635\nPhenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990\nReview for gene: AMMECR1 was set to GREEN\nAdded comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. However, onset is in early childhood. \nSources: Expert Review",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:11:35.221361+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.246",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: FANCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FANCA were set to 34794894; 33025164; 31535215; 10915769\nPhenotypes for gene: FANCA were set to Primary ovarian insufficiency\nReview for gene: FANCA was set to AMBER\nAdded comment: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.\r\nPMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)\r\nPMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging\r\nPMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility \nSources: Literature",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:09:50.781971+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.28",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25791876, PMID: 30554136; Phenotypes: Familial episodic pain syndrome 3 (MIM#615552), Hereditary sensory and autonomic neuropathy, type VII (MIM#615548); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:59:37.650537+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMMECR1 as ready",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:59:37.639685+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Green List (High Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:59:31.992629+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMMECR1 as Green List (high evidence)",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:59:31.982239+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Green List (High Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:59:02.803234+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMMECR1 was added\ngene: AMMECR1 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AMMECR1 were set to 27811305; 28089922; 29193635\nPhenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990\nReview for gene: AMMECR1 was set to GREEN\nAdded comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. Onset is in early childhood. \nSources: Expert list",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:58:10.363073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMMECR1 as ready",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:58:10.351750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Green List (High Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:57:43.474191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMMECR1 were changed from to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:57:24.222772+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMMECR1 were set to ",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:57:05.399838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMMECR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:56:48.256897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMMECR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:56:28.491581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMMECR1 as ready",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:56:28.479324+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Red List (Low Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:56:17.328974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMMECR1 were set to ",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:55:49.200254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMMECR1 as Red List (low evidence)",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:55:49.191237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Red List (Low Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:55:36.379086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMMECR1: Rating: RED; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:49:41.485278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMBRA1 as ready",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:49:41.473704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ambra1 has been classified as Green List (High Evidence).",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:49:22.715598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMBRA1 as Green List (high evidence)",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:49:22.704366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ambra1 has been classified as Green List (High Evidence).",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:49:11.876176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMBRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17589504, 32333458; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:47:19.849104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:47:19.840026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:47:12.258563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:46:54.722898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to ",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:45:58.457399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMACR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:45:39.886078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068, 34267495, 33047465; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950, Alpha-methylacyl-CoA racemase deficiency, MIM# 614307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:42:19.913787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:42:19.903724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Red List (Low Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:41:59.904889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency, 614307 to Bile acid synthesis defect, congenital, 4, MIM# 214950",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:41:48.472005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to ",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:41:37.623856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Red List (low evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:41:37.613385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Red List (Low Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:41:26.428626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMACR: Rating: RED; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:39:07.008422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALOXE3 as ready",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:39:06.999131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aloxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:39:02.588888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, 606545 to Ichthyosis, congenital, autosomal recessive 3, MIM#606545",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:38:49.689579+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALOXE3 were set to ",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:38:46.062413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.836",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:38:42.393071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:38:24.362298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM# 606545; Mode of inheritance: None",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:36:41.885562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALOX12B as ready",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:36:41.876301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alox12b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:36:34.859989+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive 2, 242100 to Ichthyosis, congenital, autosomal recessive 2, MIM#242100",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:36:24.744279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALOX12B were set to ",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:36:10.943938+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALOX12B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: None",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:35:34.358098+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALOX12B: Changed publications: 16116617, 11773004",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:33:50.917956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:33:50.907323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:33:46.111784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:33:19.751101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG9 as Green List (high evidence)",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:33:19.740649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Green List (High Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:33:09.030496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG9: Changed publications: 28932688, 25966638, 26453364",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:32:52.221812+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG9: Changed phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:32:38.393276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 11 patients from 7 families reported. DD/ID is part of the phenotype.; to: Bi-allelic variants and CDG: At least 7 unrelated families reported, 11 individuals. Clinical features include failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; three patients died in utero from a lethal skeletal dysplasia. The severe end of the spectrum is referred to as Gillessen-Kaesbach-Nishimura syndrome and is characterised by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life.",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:30:43.967124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG2 as ready",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:30:43.956367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:30:40.036786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from ALG2-CDG to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:30:27.173892+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG2 were set to ",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:30:11.353288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG2 as Red List (low evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:30:11.343401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:29:58.339913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG2: Added comment: Association with myasthenia: Two families reported, same, likely founder variant. Onset of symptoms was in infancy rather than congenital.\r\n\r\nAssociation with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; Changed publications: 23404334, 24461433, 12684507",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:27:01.941332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG13 as ready",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:27:01.918574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:26:56.870724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG13 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES. to Congenital disorder of glycosylation, type Is (MIM# 300884); Developmental and epileptic encephalopathy.",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:26:30.765243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG13 were set to ",
"entity_name": "ALG13",
"entity_type": "gene"
},
{
"created": "2021-11-30T12:26:13.314333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 families reported.; to: More than 10 families reported. Typical presentation is with refractory seizures at around 6 months of age and developmental delay.\r\n\r\nMajority of affected individuals have been females. Microcephaly reported in a male patient.",
"entity_name": "ALG13",
"entity_type": "gene"
}
]
}