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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=872",
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{
"created": "2022-04-26T13:17:10.735616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301511; Phenotypes: Choroideremia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:13:07.731081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHIT1 were changed from [Chitotriosidase deficiency] MIM#614122 to [Chitotriosidase deficiency] MIM#614122",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:57.761084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHIT1 were set to ",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:40.353741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13297",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHIT1 were changed from to [Chitotriosidase deficiency] MIM#614122",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:26.955699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13297",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHIT1 as ready",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:26.944438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13297",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chit1 has been classified as Red List (Low Evidence).",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:25.431195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13297",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CHIT1 as Red List (low evidence)",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:25.414582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13297",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chit1 has been classified as Red List (Low Evidence).",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:25.385470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13297",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: ?Suitability for Incidentalome versus Mendeliome based on adult age of diagnosis in reported cases.\r\n\r\n---\r\n\r\n\r\nSix unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility.\r\n\r\n---\r\n\r\nPMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006.\r\n\r\nPMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues. \r\n\r\nPMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease. \r\n\r\nPMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported.\r\n\r\nPMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35.\r\n\r\nPMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease. \r\n\r\n--\r\n\r\nGain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.; to: Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility.\r\n\r\n---\r\n\r\nPMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006.\r\n\r\nPMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues. \r\n\r\nPMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease. \r\n\r\nPMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported.\r\n\r\nPMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35.\r\n\r\nPMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease. \r\n\r\n--\r\n\r\nGain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:12:06.443026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13296",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHIT1: Rating: RED; Mode of pathogenicity: None; Publications: 23430794; Phenotypes: [Chitotriosidase deficiency] MIM#614122; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CHIT1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:02:15.768996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13296",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CHD1 as ready",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:02:15.751161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13296",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: chd1 has been classified as Green List (High Evidence).",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:01:49.269946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13296",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CHD1 were changed from to Pilarowski-Bjornsson syndrome, MIM#617682",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:01:45.169972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13296",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CHD1 were set to ",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:01:26.858484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13295",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CHD1 was changed from to Other",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:01:20.608168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13295",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:00:48.988259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CHD1: Changed mode of pathogenicity: Other",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T13:00:18.932286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28866611; Phenotypes: Pilarowski-Bjornsson syndrome, MIM#617682; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:58:26.487158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFP as ready",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:58:26.475212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfp has been classified as Green List (High Evidence).",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:58:20.491506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFP were changed from to Properdin deficiency, X-linked MIM#312060",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:58:12.910400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13293",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CFP were set to ",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:58:08.957512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13293",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:57:47.642157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 8871668, 10909851, 22229731, 9476131, 10698340, 10540191, 16511390, 19328743; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:50:10.924251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14699510, 17087943, 25975287, 29486293, 33449152, 34107389, 17566086, 18670346; Phenotypes: Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:34:00.235674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFI as ready",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:34:00.220781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:33:59.887963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFI as ready",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:33:59.877574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:33:51.677695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFI were changed from to Complement factor I deficiency MIM#610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:33:44.778608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13291",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CFI were set to ",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:33:36.194217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13290",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:33:16.865346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13289",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 29292855, 28942469, 27091480, 20301541; Phenotypes: Complement factor I deficiency MIM#610984, {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:17:17.175855+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.16",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T12:16:29.084972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13289",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2022-04-26T11:57:19.123655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Allelic disorders with some phenotypic overlap.\r\n\r\nSchwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported.\r\n\r\nSilverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported.; to: Allelic disorders with some phenotypic overlap.\r\n\r\nSchwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported.\r\n\r\nSilverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported. Appears associated with null variants.",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:50:50.951692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1 as ready",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:50:50.934730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:50:42.476556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:50:22.191271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:50:02.186172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:49:06.942427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD2 as ready",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:49:06.925062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Green List (High Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:48:57.490268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM# 613095",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:48:35.874765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:48:16.032896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, MIM# 613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:47:20.449725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKLR as ready",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:47:20.440035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pklr has been classified as Green List (High Evidence).",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:47:10.710472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKLR were changed from to Pyruvate kinase deficiency, MIM# 266200; Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:46:49.714195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKLR were set to ",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:46:28.147116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:46:06.402293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535; Phenotypes: Pyruvate kinase deficiency, MIM# 266200, Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:40:29.802082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKP1 as ready",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:40:29.788763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkp1 has been classified as Green List (High Evidence).",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:40:20.904036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:39:58.083046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKP1 were set to ",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:39:31.105452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:39:11.512945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:32:57.412830+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G5 were changed from Fleck retina, familial benign to [Fleck retina, familial benign], MIM# 228980",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:32:47.944163+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G5 were set to ",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:32:35.763198+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:32:16.585074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G5 as ready",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:32:16.573811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g5 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:31:51.406391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G5 were changed from to [Fleck retina, familial benign], MIM# 228980",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:31:31.631296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G5 were set to ",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:31:11.396532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:30:51.337414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:27:09.532940+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCE1 as ready",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:27:09.515460+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plce1 has been classified as Green List (High Evidence).",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:27:04.717528+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:26:34.966691+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCE1 were set to ",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:26:05.505120+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:25:33.834928+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:24:40.357404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCE1 as ready",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:24:40.341099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plce1 has been classified as Green List (High Evidence).",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:24:32.341202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:23:55.582414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCE1 were set to ",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:23:34.467630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:23:13.473402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:20:56.628356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCG2 as ready",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:20:56.614551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg2 has been classified as Green List (High Evidence).",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:20:37.033797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCG2 were changed from to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:20:16.340215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCG2 were set to ",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:19:56.487292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PLCG2 was changed from to Other",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:19:27.247645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:18:26.602691+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:17:57.419337+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLEKHM1 were set to ",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:17:31.112532+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLEKHM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:17:00.632626+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLEKHM1: Added comment: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.; Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:15:52.937808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHM1 were changed from Osteopetrosis, autosomal dominant 3, MIM# 618107 to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:13:36.331064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLEKHM1 were set to 27291868; 21054159; 17997709; 17404618",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:13:16.328394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLEKHM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:12:55.022857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three individuals reported with mono allelic variants, and one with bi-allelic. Animal model.; to: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:12:39.947933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLEKHM1: Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:11:22.147032+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:10:31.279884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHM1 as ready",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:10:31.265175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhm1 has been classified as Green List (High Evidence).",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:10:02.705832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:09:25.555384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLEKHM1 were set to ",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-04-25T15:09:05.138444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLEKHM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHM1",
"entity_type": "gene"
}
]
}