HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=581",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=579",
"results": [
{
"created": "2023-07-20T15:39:52.317409+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB3 were changed from Cortical dysplasia, complex, with other brain malformations MIM#614039; Fibrosis of extraocular muscles, congenital MIM#600638 to Cortical dysplasia, complex, with other brain malformations MIM#614039",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:37:23.297899+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB3 as Green List (high evidence)",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:37:23.280309+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2023-07-18T15:35:15.109402+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.109",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: TNFRSF9 was added\ngene: TNFRSF9 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF9 were set to PMID: 37144041\nPhenotypes for gene: TNFRSF9 were set to EBV associated lymphoproliferative disease\nReview for gene: TNFRSF9 was set to GREEN\nAdded comment: Patient with novel biallelic variants (c.208 + 1>AT and p.T151K) with EBV induced lymphoproliferative disease and chronic active EBV. Multiple previous patients reported with EBV associated disease (table1). \nSources: Literature",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-07-18T15:15:51.100242+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.101",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: SOCS1 was added\ngene: SOCS1 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOCS1 were set to PMID: 37156989\nPhenotypes for gene: SOCS1 were set to Enteropathy\nReview for gene: SOCS1 was set to GREEN\nAdded comment: 2x patients 1x presenting with treatment refractory Crohn-like disease and 1 with lymphocytic leiomyositis. Potential for targeted therapies leading to remission so important to differentiate from polygenic IBD. \nSources: Literature",
"entity_name": "SOCS1",
"entity_type": "gene"
},
{
"created": "2023-07-17T10:15:36.844847+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.176",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PLCG1 was added\ngene: PLCG1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLCG1 were set to PMID: 37422272\nPhenotypes for gene: PLCG1 were set to Immune dysregulation\nMode of pathogenicity for gene: PLCG1 was set to Other\nReview for gene: PLCG1 was set to AMBER\nAdded comment: Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease \nSources: Literature",
"entity_name": "PLCG1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:54:42.585036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: C1GALT1C1: Two maternal half-brothers with missense variant and aHUS phenotype reported, increasing evidence for association.",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:54:05.821289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216524; Phenotypes: Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:52:44.120535+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1GALT1C1 were changed from atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related to Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:52:01.526335+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1GALT1C1 were set to 36599939",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:51:32.053107+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C1GALT1C1: Changed publications: 37216524",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:51:07.431948+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1GALT1C1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:50:40.369237+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1GALT1C1 as Amber List (moderate evidence)",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:50:40.337330+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1galt1c1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:50:10.141045+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:45:01.320674+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYM3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related to Intellectual developmental disorder, X-linked 112, MIM# 301111",
"entity_name": "ZMYM3",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:44:26.825554+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 112, MIM# 301111; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZMYM3",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:43:52.344765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMYM3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related to Intellectual developmental disorder, X-linked 112, MIM# 301111",
"entity_name": "ZMYM3",
"entity_type": "gene"
},
{
"created": "2023-07-14T17:43:10.637787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 112, MIM# 301111; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZMYM3",
"entity_type": "gene"
},
{
"created": "2023-07-14T11:35:36.902983+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MFF: Rating: RED; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2023-07-14T11:12:42.389340+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 24521565, 15790783, 20301751; Phenotypes: Chediak-Higashi syndrome MIM#214500, MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-07-14T09:40:41.103918+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20920668; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641, MONDO:0013338); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2023-07-14T09:15:04.837078+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301372, 8563760; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2023-07-13T16:23:33.608726+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: None; Publications: 36063482, 24664533; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-07-13T15:56:23.168622+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 8871579, 23868323, 33744096, 12838198, 36063482; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-07-13T15:16:54.580981+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GSN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8684801, 228009, 3513049; Phenotypes: Amyloidosis, Finnish type MIM#105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2023-07-13T14:32:58.090457+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.169",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23034915, 1763891, 8494336, 20301758; Phenotypes: Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2023-07-13T12:18:16.390812+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.4",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PMVK was added\ngene: PMVK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: PMVK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMVK were set to PMID: 37364720; 36410683\nPhenotypes for gene: PMVK were set to Autoinflammation\nReview for gene: PMVK was set to AMBER\nAdded comment: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype. \nSources: Literature",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2023-07-13T11:47:22.825869+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.109",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: RIPK3 was added\ngene: RIPK3 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK3 were set to PMID: 37083451\nPhenotypes for gene: RIPK3 were set to Recurrent HSV encephalitis\nReview for gene: RIPK3 was set to AMBER\nAdded comment: Single female patient with independent episodes of HSE at 6 and 17 months of age and with autoimmune encephalitis 1 month after the second episode of HSE with two heterozygous mutations of RIPK3 predicted to be loss of function (pLOF): p. Arg422* (c.1264 C > T, MAF 0.001568, CADD 35) and p. Pro493fs9* (c.1475 C > CC, MAF 0.002611, CADD 24.2).\r\nExtensive supportive functional data including RIPK3 knockout human pluripotent stem cell–derived cortical neurons. \nSources: Literature",
"entity_name": "RIPK3",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:08:57.596444+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN2 as Green List (high evidence)",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:08:57.584719+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Green List (High Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:08:23.877271+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:06:58.807951+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN2 were changed from Intrinsic cardiomyopathy to Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:06:26.849672+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN2 as Green List (high evidence)",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:06:26.834399+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Green List (High Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:05:52.481600+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:03:15.470031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN2 as Green List (high evidence)",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-12T16:03:15.458654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Green List (High Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2023-07-11T15:33:35.215760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFE2L2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2023-07-11T15:33:09.948789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NFE2L2: Changed phenotypes: Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744, Recurrent respiratory and skin infection, Growth retardation, Developmental delay, borderline ID, White matter cerebral lesions; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2023-07-11T13:57:00.228197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMAD1 as Red List (low evidence)",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2023-07-11T13:57:00.223312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Disputed gene-disease validity curation by ClinGen PH VCEP 21/11/2022 - Only two probands reported to have PAH and SMAD1 variants. The variants are missense variants without functional data at the time of curation. Thus, SMAD1 is classified as disputed for PAH based upon insufficient genetic evidence over multiple years of research.",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2023-07-11T13:57:00.178744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad1 has been classified as Red List (Low Evidence).",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2023-07-11T13:52:22.529439+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for STR: OPDM1 were changed from Oculopharyngodistal myopathy 1 MIM#164310 to Oculopharyngodistal myopathy 1 MIM#164310; Amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-07-11T13:52:12.480565+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: OPDM1 were set to 31332380; 34047774",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-07-11T13:51:49.363965+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: OPDM1: Changed publications: 31332380, 34047774, 37339631",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-07-11T13:51:19.888499+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: OPDM1: Added comment: The CGG repeat expansion in the 5’UTR of LRP12 was identified in 5 ALS families and 2 simplex cases. 61-100 repeats associated with ALS, whereas >100 repeats causes OPDM. Toxic gain-of-function is the mechanism of disease. Authors’ suggest the differences in the levels of toxic RNA and MBNL1 dysfunction, in turn dependent on repeat length, may determine whether the affected individual develops ALS or OPDM; Changed phenotypes: Oculopharyngodistal myopathy 1 MIM#164310, Amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-07-11T13:50:35.299370+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: LRP12-ALS_CGG as Green List (high evidence)",
"entity_name": "LRP12-ALS_CGG",
"entity_type": "str"
},
{
"created": "2023-07-11T13:50:35.288618+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: lrp12-als_cgg has been classified as Green List (High Evidence).",
"entity_name": "LRP12-ALS_CGG",
"entity_type": "str"
},
{
"created": "2023-07-11T13:48:47.330082+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: LRP12-ALS_CGG was added\nSTR: LRP12-ALS_CGG was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for STR: LRP12-ALS_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: LRP12-ALS_CGG were set to 37339631\nPhenotypes for STR: LRP12-ALS_CGG were set to Amyotrophic lateral sclerosis MONDO:0004976\nReview for STR: LRP12-ALS_CGG was set to GREEN\nSTR: LRP12-ALS_CGG was marked as clinically relevant\nAdded comment: The CGG repeat expansion in the 5’UTR of LRP12 was identified in 5 ALS families and 2 simplex cases. 61-100 repeats associated with ALS, whereas >100 repeats causes OPDM. Toxic gain-of-function is the mechanism of disease. Authors’ suggest the differences in the levels of toxic RNA and MBNL1 dysfunction, in turn dependent on repeat length, may determine whether the affected individual develops ALS or OPDM. \nSources: Literature",
"entity_name": "LRP12-ALS_CGG",
"entity_type": "str"
},
{
"created": "2023-07-10T20:19:50.504707+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7B as ready",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:19:50.497420+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:19:43.872987+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7B were changed from dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia to Wilson disease, MIM# 277900",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:19:26.148996+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP7B as Amber List (moderate evidence)",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:19:26.137975+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:19:07.551247+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:17:47.282771+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:17:47.263986+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:17:42.559134+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition to Spastic paraplegia 50, autosomal recessive, MIM# 612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:17:21.156927+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP4M1 as Amber List (moderate evidence)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:17:21.144609+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:17:02.988703+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Brain iron accumulation is not a consistent/common feature of this condition.; to: Brain iron accumulation is a rarely reported feature.",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:16:45.527034+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:14:11.778972+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:14:11.768318+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:14:07.364246+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition to Pettigrew syndrome, MIM# 304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:12:58.166798+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1S2 as Amber List (moderate evidence)",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:12:58.156180+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:12:39.618260+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:08:19.078065+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGAP3 as ready",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:08:19.066099+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgap3 has been classified as Green List (High Evidence).",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:08:12.788596+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PGAP3 as Green List (high evidence)",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:08:12.769267+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgap3 has been classified as Green List (High Evidence).",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:08:02.476452+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP3 was added\ngene: PGAP3 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGAP3 were set to 28390064; 37010288\nPhenotypes for gene: PGAP3 were set to Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716\nReview for gene: PGAP3 was set to GREEN\nAdded comment: PMID:28390064 - 10 individuals from eight families presented with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Nine individuals from seven families were homozygous for the same variant (c.402dupC/ p.M135Hfs*28), while one had a different homozygous variant ( c.817_820delGACT/ p.D273Sfs*37). Of nine individuals with p.M135Hfs*28 variant, eight from seven families (except one of the two patients from family 7) had cleft palate. But, the only patient with the different variant did not have cleft palate.\r\n\r\nDECIPHER database - Of seven individuals reported with biallelic sequence variants, three with homozygous variants were reported with cleft palate and two with compound heterozygous variants were reported with cleft soft palate (PMID:37010288). \nSources: Expert Review",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:03:33.750580+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:03:33.743316+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:02:14.894709+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2A as Amber List (moderate evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:02:14.886846+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:02:02.113363+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2A were set to 25929198; 30305169; 31710778; 37010288\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130\nReview for gene: KMT2A was set to AMBER\nAdded comment: Although there are more than three cases reported with clefting, it is only present in a very small subsection of patients with KMT2A monoallelic variants.\r\n\r\nPMID:25929198 - De novo KMT2A variant (p.Arg1083Ter) in monozygotic twins and they had submucosal cleft palate.\r\n\r\nPMID:30305169 - Two of 14 patients with KMT2A variants and presenting with Wiedemann–Steiner syndrome had cleft palate.\r\n\r\nPMID:31710778 - Both patients reported with KMT2A variants had only high arched palate and not cleft palate.\r\n\r\nDECIPHER database - None of the reported patients had cleft lip/ palate and only one of 115 had bifid uvula (PMID:37010288) \nSources: Expert Review",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:00:17.426297+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:00:17.417263+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T20:00:13.526006+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, 606170; GTPTS to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:59:53.273188+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6B were set to 20182757; 27031267",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:59:40.467972+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:59:30.233535+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT6B as Green List (high evidence)",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:59:30.221577+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:58:27.900570+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI2 as ready",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:58:27.890139+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli2 has been classified as Green List (High Evidence).",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:58:22.121576+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI2 as Green List (high evidence)",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:58:22.109360+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli2 has been classified as Green List (High Evidence).",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:58:10.497562+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI2 was added\ngene: GLI2 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLI2 were set to 24744436; 37010288\nPhenotypes for gene: GLI2 were set to Culler-Jones syndrome, OMIM:615849; Holoprosencephaly 9, OMIM:610829\nReview for gene: GLI2 was set to GREEN\nAdded comment: Although clefting is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases.\r\n\r\nIn ~400 screened individuals with HPE spectrum disorders, 112 individuals were identified with variants in GLI2 gene, of which 16 cases had cleft lip/ palate (PMID:24744436). \r\n\r\nThree out of 17 patients reported with heterozygous GLI2 sequence variants in the DECIPHER database presented with cleft lip/ palate as one of the phenotypes (PMID:37010288). \nSources: Expert Review",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:55:36.723072+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSL3 as ready",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:55:36.708571+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl3 has been classified as Green List (High Evidence).",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:55:27.301858+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSL3 as Green List (high evidence)",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:55:27.293660+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl3 has been classified as Green List (High Evidence).",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:54:38.770915+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS2 as ready",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:54:38.760805+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs2 has been classified as Green List (High Evidence).",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:54:27.006333+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOCS2 as Green List (high evidence)",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:54:26.987598+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs2 has been classified as Green List (High Evidence).",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2023-07-10T19:53:20.208010+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
}
]
}