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{
"count": 220309,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=892",
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"results": [
{
"created": "2022-04-07T11:27:31.579556+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.6",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: vps16 has been classified as Green List (High Evidence).",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:27:11.027572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12714",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: SLC35B2 was added\ngene: SLC35B2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35B2 were set to PMID: 35325049\nPhenotypes for gene: SLC35B2 were set to chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability\nReview for gene: SLC35B2 was set to AMBER\nAdded comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.\r\n\r\nFunctional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. \nSources: Literature",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:27:09.416226+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: PIGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIGA were set to 34875027\nPhenotypes for gene: PIGA were set to Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072\nReview for gene: PIGA was set to GREEN\nAdded comment: Heterozygous variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest. \nSources: Literature",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:27:00.425087+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.5",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: VPS16 as ready",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:27:00.413120+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.5",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: vps16 has been classified as Red List (Low Evidence).",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:26:57.352526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12714",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AHSG was added\ngene: AHSG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AHSG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHSG were set to PMID: 28054173; 9395485; 31288248; 17389622\nPhenotypes for gene: AHSG were set to ?Alopecia-intellectual disability syndrome 1 MIM#203650; infantile cortical hyperostosis\nReview for gene: AHSG was set to RED\nAdded comment: PMID: 28054173 - 7 relatives within a large consanguinous fam w/ alopecia and ID, and a hom missense (p.Arg317His). Modelling predicts this variant to be a phosphorylation site, functional studies show a difference in protein size. Unclear biological significance.\r\nAlt change with stronger GS (p.(Arg317Cys)) is a common poly with 19 homozygotes in gnomAD.\r\n\r\nNo hom PTCs in gnomAD\r\n\r\nPMID: 9395485 - K/O mouse model shows no gross anatomical abnormalities, were fertile and \"healthy\". No mentioned of ID, alopecia\r\nPMID: 17389622 - K/O mouse model on the calcification resistant genetic background C57BL/6, shows uraemia and phosphate challenge. No mentioned of ID, alopecia\r\n\r\nPMID: 31288248 - 1 hom infant (p.K2*, within 5' NMD escape region) with infantile cortical hyperostosis, loss of enzyme in patient serum shown by ELISA. No mentioned of ID, alopecia \nSources: Literature",
"entity_name": "AHSG",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:26:36.153366+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.5",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: VPS16 was added\ngene: VPS16 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS16 were set to 33938619; 34013567; 34901436\nPhenotypes for gene: VPS16 were set to mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365\nPenetrance for gene: VPS16 were set to unknown\nReview for gene: VPS16 was set to GREEN\ngene: VPS16 was marked as current diagnostic\nAdded comment: for AR MPS:\r\n3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys\r\n\r\nRNA and functional studies done on the splice variant\r\n\r\nalso associated with AD dystonia\r\nPMID:34901436 suggests dystonia is transcript specific \nSources: Literature",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:24:11.139961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12713",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 35373813; Phenotypes: Developmental and epileptic encephalopathy 61 (MIM#617933); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:24:07.523745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12713",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: VPS16 were changed from Dystonia 30, MIM#619291 to Dystonia 30, MIM#619291; mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:23:58.314434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12712",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: VPS16 were set to 32808683",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:23:40.325718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12712",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:23:27.715041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: MDFIC was added\ngene: MDFIC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDFIC were set to 35235341\nPhenotypes for gene: MDFIC were set to Central conducting lymphatic anomaly with lymphedema\nReview for gene: MDFIC was set to GREEN\nAdded comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. \r\n\r\nSeven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax. \nSources: Literature",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:22:52.916159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ATP2B1 was added\ngene: ATP2B1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B1 were set to PMID: 35358416\nPhenotypes for gene: ATP2B1 were set to Neurodevelopmental delay; autism; seizures; distal limb abnormalities\nReview for gene: ATP2B1 was set to GREEN\nAdded comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense. \nSources: Expert list",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:21:56.892062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: for AR MPS:\r\n3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys\r\n\r\nRNA and functional studies done on the splice variant\r\n\r\nfor AD\r\nsee review below; to: for AR MPS:\r\n3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys\r\n\r\nRNA and functional studies done on the splice variant\r\n\r\nfor AD\r\nsee review below\r\n\r\nPMID:34901436 suggests dystonia is transcript specific",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:21:14.411177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: VPS16: Changed publications: 33938619, 34013567, 34901436",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:19:06.684958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: for AR MPS:\r\n3 unrelated families - 2x hom c.2272‐18C>A and 1x het p.Trp180Cys\r\n\r\nRNA and functional studies done on the splice variant\r\n\r\nfor AD\r\nsee review below; to: for AR MPS:\r\n3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys\r\n\r\nRNA and functional studies done on the splice variant\r\n\r\nfor AD\r\nsee review below",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:18:42.463772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF4 as ready",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:18:42.454230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf4 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:18:29.343675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF4 were changed from to {Myocardial infarction, susceptibility to} 608446",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:18:08.431151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFSF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:18:07.763706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12709",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: VPS16: Rating: GREEN; Mode of pathogenicity: None; Publications: 33938619, 34013567; Phenotypes: mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VPS16",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:17:47.765148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFSF4 as Red List (low evidence)",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:17:47.753561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf4 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:17:30.110574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNFSF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Myocardial infarction, susceptibility to} 608446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFSF4",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:16:21.581749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF11 as ready",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:16:21.570027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf11 has been classified as Green List (High Evidence).",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:16:11.634253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2, MIM# 259710",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:15:00.962626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNFSF11 were set to ",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:14:43.915662+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFSF11 as ready",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:14:43.902730+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfsf11 has been classified as Green List (High Evidence).",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:14:40.686488+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2 MIM#259710",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:14:12.503496+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNFSF11 were set to ",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:13:44.991961+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:13:24.605098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:13:05.730655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNFSF11: Changed publications: 17632511, 32048120, 10984520",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:12:55.469973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple families and mouse model.",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:12:26.628280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM# 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:06:01.209122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF11B as ready",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:06:01.195409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf11b has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:01:51.714702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF11B were changed from to Paget disease of bone 5, juvenile-onset, MIM# 239000",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:01:29.406498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNFRSF11B were set to ",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:00:44.870957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFRSF11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:00:26.480599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset, MIM# 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:58:41.515348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM240 as ready",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:58:41.502897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem240 has been classified as Green List (High Evidence).",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:58:32.966415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, MIM# 607454",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:58:12.734761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM240 were set to ",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:57:52.624532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM240",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:57:04.167158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM127 as ready",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:57:04.156327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem127 has been classified as Green List (High Evidence).",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:56:42.149146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to} 171300",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:56:19.666602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:56:00.487743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to} 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:54:47.037050+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM126B as ready",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:54:47.023016+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem126b has been classified as Green List (High Evidence).",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:52:29.032998+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:51:49.631275+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM126B were set to ",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:50:02.419221+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:49:23.356115+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:48:38.945357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM126B as ready",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:48:38.926840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem126b has been classified as Green List (High Evidence).",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:47:49.965905+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:47:30.752459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:47:09.114408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM126B were set to ",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:46:44.729646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:46:26.104368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:37:02.364090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM106B as ready",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:37:02.350569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem106b has been classified as Green List (High Evidence).",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:36:50.658043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM106B were changed from to Leukodystrophy, hypomyelinating, 16, MIM# 617964",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:36:29.041652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM106B were set to ",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:36:05.560711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM106B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:35:45.660660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cerebellar signs including ataxia prominent.; to: Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum.\r\n\r\nAt least 5 unrelated individuals reported.",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:33:10.622012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:33:10.599905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Green List (High Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:32:49.772497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2 (MIM#618388); Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:31:37.048154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAPSN were set to ",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:31:07.160368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:29:27.764067+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:29:27.278166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51C as ready",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:29:27.261641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:29:07.301511+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIG3: Changed phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:28:37.530602+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:27:56.488267+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:27:05.669465+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG3 were changed from mitochondrial neurogastrointestinal encephalomyopathy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:26:16.202092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD51C were changed from to Fanconi anaemia, complementation group O (MIM#613390)",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:25:16.412440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD51C were set to ",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:25:00.417593+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:24:12.555314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:22:05.807463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:20:54.963230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A26 as ready",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:20:54.945187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a26 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:20:40.494295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIG3: Changed phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:12:46.467964+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A26 as ready",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:12:46.458116+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a26 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:12:34.289692+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A26 were changed from Combined oxidative phosphorylation deficiency 28, MIM# 616794 to Combined oxidative phosphorylation deficiency 28, MIM# 616794",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:03:42.422266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGN as ready",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:03:42.413070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:03:29.455945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGN as Amber List (moderate evidence)",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2022-04-07T10:03:29.444445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:58:52.799854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GGN was added\ngene: GGN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGN were set to 31985809; 33108537\nPhenotypes for gene: GGN were set to Spermatogenic failure 69, MIM#\t619826\nReview for gene: GGN was set to AMBER\nAdded comment: Three individuals from two unrelated families reported. \nSources: Literature",
"entity_name": "GGN",
"entity_type": "gene"
}
]
}