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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1157",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1155",
"results": [
{
"created": "2021-10-27T10:53:18.871382+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 8202715, 32716032, 30630813; Phenotypes: Retinitis pigmentosa 7, digenic form; Mode of inheritance: Other",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:54:20.261801+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: RHO: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18487375, 27812022, 31213501, 1303237; Phenotypes: Congenital stationary night blindness,retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:26:19.966141+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Nystagmus is a feature of LCA; to: Nystagmus is a feature of LCA",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:23:17.387987+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 16269441, 15322982, 15258582; Phenotypes: Leber congenital amaurosis 13 612712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:10:45.515364+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101, 22531706, 17186464; Phenotypes: Leber congenital amaurosis 12 MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:04:49.232062+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:44:15.833697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRPH2: Changed phenotypes: Leber congenital amaurosis 18, MIM#608133, Macular dystrophy, vitelliform, 3, MIM#608161, Retinitis pigmentosa 7 and digenic form, MIM#608133, Choroidal dystrophy, central areolar 2, MIM#613105, Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:43:40.320448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPH2 as ready",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:43:40.311106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prph2 has been classified as Green List (High Evidence).",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:43:33.364497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH2 were changed from Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133 to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:42:49.764078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:36:49.299401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRPH2 were set to ",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:36:29.879859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPH2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:36:10.815548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32660024; Phenotypes: Leber congenital amaurosis 18, MIM#608133 Macular dystrophy, vitelliform, 3, MIM#608161 Retinitis pigmentosa 7 and digenic form, MIM#608133 Choroidal dystrophy, central areolar 2, MIM#613105 Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:33:28.011127+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPH2 as ready",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:33:28.000695+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prph2 has been classified as Green List (High Evidence).",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:33:26.344435+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18 MIM#608133",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:33:19.589226+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRPH2 were set to ",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:32:50.773200+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPH2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T17:32:41.134091+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33712029; Phenotypes: Leber congenital amaurosis 18 MIM#608133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:30:13.336045+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6C as ready",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:30:13.326429+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6c has been classified as Green List (High Evidence).",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:30:10.443631+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6C were set to 19615668; 30080950",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:22:35.924189+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6B as ready",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:22:35.911668+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Green List (High Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:22:33.276379+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6B were set to ",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:22:23.684874+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:21:58.254412+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17044014, 24760071, 8075643; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:21:27.143678+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6B as ready",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:21:27.117865+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Red List (Low Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:21:13.352098+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6B were set to ",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:21:05.517226+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:20:36.287571+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6B as Red List (low evidence)",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:20:36.278434+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Red List (Low Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T16:20:27.599745+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 17044014, 24760071, 8075643; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-26T14:59:43.769289+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101; Phenotypes: Leber congenital amaurosis 12 610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-26T11:12:29.858314+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-26T10:58:30.291092+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023).\r\n\r\nPubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population.\r\n\r\n\r\nPubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.; to: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023).\r\n\r\nPubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population.\r\n\r\n\r\nPubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T10:53:39.502427+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23847139, 25447119, 1684223; Phenotypes: Choroidal dystrophy, central areolar 2 MIM#613105, Leber congenital amaurosis 18 MIM#608133, Macular dystrophy, patterned, 1 MIM#169150, Macular dystrophy, vitelliform, 3 MIM#608161, Retinitis pigmentosa 7 and digenic form MIM#608133, Retinitis punctata albescens MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-26T09:55:27.550510+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFHX4 as ready",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2021-10-26T09:55:27.537780+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2021-10-26T09:39:28.025498+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 19887631, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2021-10-26T09:14:37.354728+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 18854872, 8075643; Phenotypes: Retinitis pigmentosa-40 MIM#613801, Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:21:13.083563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XBP1 as ready",
"entity_name": "XBP1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:21:13.074892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xbp1 has been classified as Red List (Low Evidence).",
"entity_name": "XBP1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:20:58.108264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XBP1 were set to ",
"entity_name": "XBP1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:20:40.884895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XBP1 as Red List (low evidence)",
"entity_name": "XBP1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:20:40.874480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xbp1 has been classified as Red List (Low Evidence).",
"entity_name": "XBP1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:19:47.701244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:19:47.690936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:19:44.244301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA2 were changed from AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5 to Multisystemic smooth muscle dysfunction syndrome - MIM# 613834",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:19:29.210467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTA2 were set to ",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:19:17.626323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:18:49.583807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9482",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ACTC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-25T18:16:45.956255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL9L as ready",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:16:45.943265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:16:39.121878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL9L were set to 23035047; 8757136",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:16:19.092888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL9L as Amber List (moderate evidence)",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:16:19.081367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:16:05.783357+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL9L as ready",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:16:05.773868+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:15:54.630983+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL9L were set to 23035047; 8757136",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:15:49.626272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart disease; Mode of inheritance: None",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:15:33.175193+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL9L as Amber List (moderate evidence)",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:15:33.164915+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:14:57.705451+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL9L as ready",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:14:57.696366+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:14:53.665913+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart defects; Mode of inheritance: None",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:14:25.308941+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL9L were set to 23035047; 8757136",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:13:53.177953+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL9L as Amber List (moderate evidence)",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:13:53.167186+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:13:30.417033+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart defects; Mode of inheritance: None",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:10:47.663300+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:IMPDH1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-25T18:10:09.174458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPDH1 as ready",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:10:09.164246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh1 has been classified as Green List (High Evidence).",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:10:02.864789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:09:45.817894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IMPDH1 were set to ",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:09:29.147860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:09:13.133264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16384941; Phenotypes: Leber congenital amaurosis 11 (MIM# 613837), Retinitis pigmentosa 10 (MIM# 180105); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:57.977731+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPDH1 as ready",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:57.960716+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:56.020350+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11, MIM#613837",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:46.860952+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IMPDH1 were set to ",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:40.372843+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:35.098174+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IMPDH1 as Amber List (moderate evidence)",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:35.088630+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impdh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:07:26.884485+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IMPDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 11 MIM#613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:06:34.459185+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:KCNJ13 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-25T18:05:56.103811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ13 as ready",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:05:56.093755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj13 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:05:48.618139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186; Snowflake vitreoretinal degeneration, MIM# 193230",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:05:31.290537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ13 were set to ",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:05:15.066923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:04:56.576225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LCA and bi-allelic variants: at least 4 individuals reported. Green.\r\n\r\nSingle family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.; to: Variants in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD), though individuals with bi-allelic variants and LCA with subsequent fibrovascular proliferation described (PMID 31647904).\r\n\r\nLCA and bi-allelic variants: at least 4 individuals reported. Green.\r\n\r\nSingle family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:04:34.840430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485, 18179896, 23255580, 31647904; Phenotypes: Leber congenital amaurosis 16 MIM#614186, Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:01:55.746933+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ13 as ready",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:01:55.736381+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj13 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:01:53.766161+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:01:46.690559+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ13 were set to ",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-25T18:01:39.844321+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ13 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ13",
"entity_type": "gene"
}
]
}