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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1332",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1330",
"results": [
{
"created": "2021-05-04T16:03:06.543436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspb1 has been classified as Green List (High Evidence).",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T16:02:56.246696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPB1 were changed from to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T16:02:36.996071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPB1 were set to ",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T16:02:16.927443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T16:01:57.396902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21785432, 15122254, 18832141, 32639100, 32334137; Phenotypes: Charcot Marie Tooth disease, axonal, type 2F, 606595, MONDO:0011687, Neuropathy, distal hereditary motor, type IIB, 608634, MONDO:0012080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:26:28.175335+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19536174, 26822750; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:56:07.469497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HINT1 as ready",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:56:07.459679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hint1 has been classified as Green List (High Evidence).",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:56:00.879666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HINT1 were changed from to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:55:42.059679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HINT1 were set to ",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:55:23.193854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HINT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:55:06.352041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22961002, 33663550, 33404983, 31848916; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:47:17.516310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB4 as ready",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:47:17.501564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb4 has been classified as Green List (High Evidence).",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:47:10.279630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB4 were changed from to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:46:52.213713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB4 were set to ",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:46:31.643073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:46:11.570314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434117, 28642160, 27908631; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185, MONDO:0014074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:42:44.401002+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; MONDO:0010549",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:42:04.804748+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJB1 were set to ",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:40:59.595955+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:40:36.818763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJB1 as ready",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:40:36.807011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb1 has been classified as Green List (High Evidence).",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:40:29.613181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; reversible posterior leukoencephalopathy",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:40:27.164279+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:39:57.590628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJB1 were set to ",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:39:33.197599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:39:29.848684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7470",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: NEPRO was added\ngene: NEPRO was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEPRO were set to 26633546; 29620724; 31250547\nPhenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853\nReview for gene: NEPRO was set to AMBER\nAdded comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant.\r\n\r\nPMID 31250547: 1 family with homozygous novel missense \r\n\r\nAll 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies. \nSources: Literature",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:39:23.114503+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJB1 as Green List (high evidence)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:39:23.094716+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb1 has been classified as Green List (High Evidence).",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:38:44.133447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8266101, 17100997, 17353473, 31842800; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800, MONDO:0010549, reversible posterior leukoencephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:29:32.893603+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-RNR1 were set to ",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T14:05:37.245153+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.621",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: MT-RNR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301595; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2021-05-04T07:58:13.117401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD4 as ready",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-05-04T07:58:13.104587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd4 has been classified as Green List (High Evidence).",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-05-04T07:58:06.288798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD4 were changed from to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-05-04T07:57:49.427367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD4 were set to ",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-05-04T07:57:32.344872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-05-04T07:57:14.682091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957; Phenotypes: Charcot Marie Tooth disease, type 4H, 609311, MONDO:0012250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2021-05-03T20:12:22.195948+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELP1 were changed from OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2021-05-03T20:12:09.365163+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELP1 were set to ",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2021-05-03T20:11:57.843742+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:07:03.301387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX6A1 as ready",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:07:03.290321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a1 has been classified as Green List (High Evidence).",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:06:48.376570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:06:30.077270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX6A1 were set to ",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:06:04.387584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:05:45.985764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:05:09.504856+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX6A1 as ready",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:05:09.486097+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox6a1 has been classified as Green List (High Evidence).",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:05:05.834069+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:04:40.594370+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX6A1 were set to ",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:04:16.133493+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T18:03:44.324298+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2021-05-03T16:24:33.148228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: JAG2 was added\ngene: JAG2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAG2 were set to PMID: 33861953\nPhenotypes for gene: JAG2 were set to muscular dystrophy\nReview for gene: JAG2 was set to GREEN\nAdded comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy. \nSources: Literature",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:40:13.753084+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.112",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:37:44.933747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3730",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:36:08.244102+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1070",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay.; to: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay. Epilepsy reported in 9/33.",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:35:44.325291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:35:26.096777+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1070",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:33:25.193535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Changed phenotypes: Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:32:35.734593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: \"Five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.\"; to: \"Five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.\"\r\n\r\n\"Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay. Two siblings further presented with therapy-resistant epilepsy. No major dysmorphic features were found. In two individuals, retinal pigment alterations were noticed. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals while in one case (Subject 9) bilateral hyperintensities at the nucleus caudatus area were noted. No hearing or vision problems were noted and in cases where nerve conduction studies were performed, these were normal. Transmission electron microscopy (TEM) on peripheral blood lymphocytes from Subject 2 and lymphoblastoid cells from Subject 3 revealed more multilayered vesicles compared to control cells.\"",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:31:36.838064+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SIN3B was added\ngene: SIN3B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SIN3B were set to PMID: 33811806\nPhenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder\nReview for gene: SIN3B was set to GREEN\nAdded comment: PMID: 33811806\r\n- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)\r\n- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.\r\n- All SNV carriers had mild/mod ID \nSources: Literature",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:29:37.857231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SIN3B was added\ngene: SIN3B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SIN3B were set to PMID: 33811806\nPhenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder\nReview for gene: SIN3B was set to GREEN\nAdded comment: PMID: 33811806 \r\n- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)\r\n- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.\r\n- CNVs encompassing the gene have been found \nSources: Literature",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:26:48.600951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: DPYSL5 was added\ngene: DPYSL5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL5 were set to 33894126\nPhenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities\nReview for gene: DPYSL5 was set to GREEN\nAdded comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development \nSources: Literature",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:20:59.548942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: VPS41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33764426; Phenotypes: Progressive neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-05-03T15:20:12.683792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SCD was added\ngene: SCD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCD were set to PMID: 33690217; 10899171\nPhenotypes for gene: SCD were set to Adrenoleukodystrophy\nReview for gene: SCD was set to RED\nAdded comment: PMID: 33690217 zebrafish K/O mimics the motor phenotype of ALD zebrafish\r\n\r\nPMID: 10899171 null mouse was deficient in hepatic cholesterol esters and triglycerides despite the presence of normal activities of acyl-CoA, very low levels of triglycerides \nSources: Literature",
"entity_name": "SCD",
"entity_type": "gene"
},
{
"created": "2021-05-03T10:00:56.471012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM#\t619302; microcephaly; seizures",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2021-05-03T10:00:35.379684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2021-05-03T10:00:17.344354+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM#\t619302; microcephaly; seizures",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:59:45.316999+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:59:08.405827+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:58:28.362247+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:57:47.421281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:56:31.196923+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:55:56.069455+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:55:28.195306+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:55:04.167870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:54:40.268986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:54:11.572501+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM#\t619301; microcephaly; seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:53:24.137475+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:14:38.279677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:14:38.265345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:14:29.767681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:14:11.542593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BICD2 were set to ",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:13:52.546802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-05-03T09:13:30.278428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:49:22.191093+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA2 were changed from Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome, MIM#619293",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:48:16.476636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA2 were changed from Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome, MIM#619293",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:47:48.873104+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA2 were changed from Blepharophimosis-intellectual disability syndrome (BIS) to Blepharophimosis-intellectual disability syndrome (BIS), MIM#619293",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:46:05.911692+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:45:53.474258+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:45:37.530062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2021-05-02T17:45:18.836682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:53:38.709384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ5 as ready",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:53:38.697588+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq5 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:53:34.592007+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:53:07.409133+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ5 were set to ",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:52:35.495917+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:52:08.493634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ5",
"entity_type": "gene"
}
]
}