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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=141",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=139",
"results": [
{
"created": "2025-10-30T13:47:21.870664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3496",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Green List (High Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:47:07.455767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FCN3: Added comment: Same recurrent hmz variant in all reported cases, downgrade.; Changed rating: RED",
"entity_name": "FCN3",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:46:38.617148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.462",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene.\r\n\r\nComprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 41054827, 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:46:38.311575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3495",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924, 41028987; Phenotypes: Neurodevelopmental disorder with hypotonia and seizures (MIM#620790), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD7A",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:46:36.794035+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene.\r\n\r\nComprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 41054827, 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:46:32.449556+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.294",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene.\r\n\r\nComprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 41054827, 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:46:27.825303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3495",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene.\r\n\r\nComprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 41054827, 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:42:17.197621+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM17 as Green List (high evidence)",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:42:17.186386+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.93",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Green List (High Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:41:24.116953+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.92",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene.\r\n\r\nComprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:38:44.507408+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.92",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:21:01.532190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3495",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from PRKACA.\nSource Expert Review was added to PRKACA.\nPhenotypes for gene: PRKACA were changed from Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability; Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359\nPublications for gene PRKACA were changed from 33058759; 31130284; 24571724, 25924874, 40066253, 37988664, 39006359 to 33058759; 31130284; 24571724, 25924874, 40066253, 37988664, 39006359",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:18:48.192660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3494",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from PDE11A.\nSource Expert List was added to PDE11A.\nPhenotypes for gene: PDE11A were changed from Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475 to Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505\nPublications for gene PDE11A were changed from 16767104; 18559625; 21047926; 17178847; 39006359, 20351491, 18491255, 18559625 to 16767104; 18559625; 21047926; 17178847; 39006359, 20351491, 18491255, 18559625",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:17:17.971784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3493",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from PDE8B.\nPhenotypes for gene: PDE8B were changed from Striatal degeneration, autosomal dominant, MIM#609161 to Striatal degeneration, autosomal dominant, MIM#609161; Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616\nPublications for gene PDE8B were changed from 20085714; 26769607; 26475694; 39006359, 32097969, 18272904, 25971952, 22335482, 18431404 to 20085714; 26769607; 26475694; 39006359, 32097969, 18272904, 25971952, 22335482, 18431404",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:16:20.091643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3492",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ARMC5 from panel Primary pigmented nodular adrenocortical disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-30T13:16:19.492543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3492",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARMC5 was added\ngene: ARMC5 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARMC5 were set to 39910635, 41042544, 25853793, 24283224, 24601692, 24708098, 24905064, 39006359, 32097969\nPhenotypes for gene: ARMC5 were set to ACTH-independent macronodular adrenal hyperplasia 2, MONDO:0014416",
"entity_name": "ARMC5",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:15:47.085465+11:00",
"panel_name": "Hypertension and Aldosterone disorders",
"panel_id": 190,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARMC5 was added\ngene: ARMC5 was added to Hypertension and Aldosterone disorders. Sources: Literature\nMode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARMC5 were set to 25822102\nPhenotypes for gene: ARMC5 were set to Primary aldosteronism, MONDO:0001422\nReview for gene: ARMC5 was set to RED\nAdded comment: 12 germline ARMC5 genetic variants (9 missense and 2 intronic) in 20 unrelated and 2 related individuals in a cohort of 56 patients with primary aldosteronism. \r\n\r\n4/9 missense variants and 2/3 intronic variants were predicted to be damaging by in silico analysis. All affected patients carrying a variant predicted to be damaging were African Americans. However, the variants were seen too commonly in the general population. No functional assays of the variants.\r\n\r\nNote: ARMC5 has established association with Primary pigmented nodular adrenocortical disease. \nSources: Literature",
"entity_name": "ARMC5",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:15:32.338793+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ARMC5 as Green List (high evidence)",
"entity_name": "ARMC5",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:15:32.329941+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: armc5 has been classified as Green List (High Evidence).",
"entity_name": "ARMC5",
"entity_type": "gene"
},
{
"created": "2025-10-30T13:15:27.846112+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARMC5 was added\ngene: ARMC5 was added to Primary pigmented nodular adrenocortical disease. Sources: Literature\nMode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARMC5 were set to 39910635, 41042544, 25853793, 24283224, 24601692, 24708098, 24905064, 39006359, 32097969\nPhenotypes for gene: ARMC5 were set to ACTH-independent macronodular adrenal hyperplasia 2, MONDO:0014416\nReview for gene: ARMC5 was set to GREEN\nAdded comment: Numerous cases reported and established gene-disease association. \nSources: Literature",
"entity_name": "ARMC5",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:57:03.733583+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.50",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: PPIB was added\ngene: PPIB was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: PPIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPIB were set to 41045073\nPhenotypes for gene: PPIB were set to Optic atrophy (MONDO:0003608), PPIB-related\nReview for gene: PPIB was set to AMBER\nAdded comment: PMID: 41045073 report 19 individuals from 9 families with adult‑onset autosomal dominant optic atrophy with a recurrent p.(Arg180Trp) missense variant (present in 7 hets in gnomAD v4). Segregation testing also identified the variant in 7 unaffected individuals (6 of whom were younger than 30yo). Somalier (relatedness metric) found possible distant relationships between 3 families; and 5 families have a shared haplotype, indicating a possible founder effect. Patient-derived fibroblasts showed altered mitochondrial morphology and subtle respiratory chain defects. \nSources: Literature",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:56:09.022567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3491",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 41045073; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440, Optic atrophy (MONDO:0003608), PPIB-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:50:17.352216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3491",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24571724, 25924874, 40066253, 37988664, 39006359; Phenotypes: Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:50:12.268466+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 10 individuals from 8 unrelated family reported with ACTH-independent Cushing syndrome due to macronodular bilateral adrenal hyperplasia or adrenal adenomas. All individuals have chromosome duplications/triplications involving 19p13 region and PRKACA gene. Patient cells showed increased protein levels of the PKA catalytic subunit as well as increased basal protein kinase A activity, consistent with a gain of function. \nSources: Literature; to: Numerous cases reported with ACTH-independent Cushing syndrome due to macronodular bilateral adrenal hyperplasia or adrenal adenomas. \r\n\r\nAll individuals have chromosome duplications/triplications involving 19p13 region and PRKACA gene. \r\n\r\nPatient cells showed increased protein levels of the PKA catalytic subunit as well as increased basal protein kinase A activity, consistent with a gain of function. \r\n",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:49:31.595317+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: PRKACA were set to 24571724, 25924874",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:45:01.677440+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PRKACA as Green List (high evidence)",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:45:01.669864+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: prkaca has been classified as Green List (High Evidence).",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:44:56.038092+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PRKACA was added\ngene: PRKACA was added to Primary pigmented nodular adrenocortical disease. Sources: Literature\nMode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKACA were set to 24571724, 25924874\nPhenotypes for gene: PRKACA were set to Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359\nMode of pathogenicity for gene: PRKACA was set to Other\nReview for gene: PRKACA was set to GREEN\nAdded comment: 10 individuals from 8 unrelated family reported with ACTH-independent Cushing syndrome due to macronodular bilateral adrenal hyperplasia or adrenal adenomas. All individuals have chromosome duplications/triplications involving 19p13 region and PRKACA gene. Patient cells showed increased protein levels of the PKA catalytic subunit as well as increased basal protein kinase A activity, consistent with a gain of function. \nSources: Literature",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:30:48.173611+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDE8B as Green List (high evidence)",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:30:48.165935+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pde8b has been classified as Green List (High Evidence).",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:30:42.349333+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDE8B was added\ngene: PDE8B was added to Primary pigmented nodular adrenocortical disease. Sources: Expert List\nMode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE8B were set to 39006359, 32097969, 18272904, 25971952, 22335482, 18431404\nPhenotypes for gene: PDE8B were set to Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616\nReview for gene: PDE8B was set to GREEN\nAdded comment: Numerous cases reported and established gene-disease association \nSources: Expert List",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:30:38.722203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3491",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PDE8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39006359, 32097969, 18272904, 25971952, 22335482, 18431404; Phenotypes: Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:21:15.097307+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene PDE11A were changed from 39006359, 16767104, 20351491, 18491255, 18559625, 32097969 to 39006359, 16767104, 20351491, 18491255, 18559625, 32097969",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:16:39.948475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3491",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDE11A as Green List (high evidence)",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:16:39.936447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3491",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pde11a has been classified as Green List (High Evidence).",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:16:26.787283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3490",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PDE11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39006359, 16767104, 20351491, 18491255, 18559625; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:16:02.475476+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDE11A as Green List (high evidence)",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:16:02.464631+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pde11a has been classified as Green List (High Evidence).",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:15:56.933965+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PDE11A was added\ngene: PDE11A was added to Primary pigmented nodular adrenocortical disease. Sources: Expert List\nMode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE11A were set to 39006359, 16767104, 20351491, 18491255, 18559625\nPhenotypes for gene: PDE11A were set to Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505\nReview for gene: PDE11A was set to GREEN\nAdded comment: Numerous cases reported and established gene-disease association \nSources: Expert List",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:06:41.081399+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PRKAR1A as Green List (high evidence)",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:06:41.070428+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-10-30T12:06:35.057907+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Primary pigmented nodular adrenocortical disease. Sources: Expert List\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKAR1A were set to 39006359, 12213893, 40066253, 39355138, 11115848\nPhenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1, MONDO:0012509; Carney complex type 1, MONDO:0008057\nReview for gene: PRKAR1A was set to GREEN\nAdded comment: Pigmented nodular adrenocortical disease reported in Carney complex. \r\nGene-disease association is definitive in ClinGen.\r\n\r\nPigmented nodular adrenocortical disease can also occur in isolation with numerous cases reported. \nSources: Expert List",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:52:15.311002+11:00",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 4488,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Primary pigmented nodular adrenocortical disease\nSet panel types to: Genetic Health Queensland",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-30T11:45:48.380602+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.49",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:34:09.791562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.398",
"user_name": "Fahaz Nazer",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39953909; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:31:56.724869+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KDM1A as Green List (high evidence)",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:31:56.713621+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.278",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Green List (High Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:31:49.934077+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.277",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:12:54.460539+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Renal Tubulointerstitial Disease. Sources: Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to PMID: 41061854\nPhenotypes for gene: JAG1 were set to JAG1-related autosomal dominant tubulointerstitial kidney disease; Alagille syndrome, MONDO:0007318\nReview for gene: JAG1 was set to GREEN\nAdded comment: Kidney malformations and chronic kidney disease are well established in Alagille syndrome.\r\n\r\n3 large families (out of 203) with ADTKD and a (likely) pathogenic variant in JAG1 gene segregating with disease. JAG1 expression studies as well ER stress analysis suggested that the tubulointerstitial kidney disease was not due to cell toxicity of an abnormal protein, but rather to haploinsufficiency and loss of function. \r\n\r\nNone of the 23 adult patients with isolated kidney failure (and tubulointerstitial nephritis in individuals with available kidney biopsy) had syndromic manifestations of Alagille syndrome (i.e. liver, bile duct, heart, eye, or skeletal). Therefore, JAG1 variants should be considered in isolated tubulointerstitial kidney disease. \nSources: Literature",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:12:14.020962+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Renal Tubulointerstitial Disease. Sources: Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to PMID: 41061854\nPhenotypes for gene: JAG1 were set to JAG1-related autosomal dominant tubulointerstitial kidney disease; Alagille syndrome, MONDO:0007318\nReview for gene: JAG1 was set to GREEN\nAdded comment: Kidney malformations and chronic kidney disease are well established in Alagille syndrome.\r\n\r\n3 large families (out of 203) with ADTKD and a (likely) pathogenic variant in JAG1 gene segregating with disease. JAG1 expression studies as well ER stress analysis suggested that the tubulointerstitial kidney disease was not due to cell toxicity of an abnormal protein, but rather to haploinsufficiency and loss of function. \r\n\r\nNone of the 23 adult patients with isolated kidney failure (and tubulointerstitial nephritis in individuals with available kidney biopsy) had syndromic manifestations of Alagille syndrome (i.e. liver, bile duct, heart, eye, or skeletal). Therefore, JAG1 variants should be considered in isolated tubulointerstitial kidney disease. \nSources: Literature",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-10-30T11:05:13.919067+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "removed gene:MSH6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-30T10:51:40.434671+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.10",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "removed gene:MLH1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-30T10:51:35.303175+11:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "1.9",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "removed gene:MSH2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-30T10:18:11.392846+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.353",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Copied gene SLC31A1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-30T10:18:11.251439+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.353",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: SLC31A1 was added\ngene: SLC31A1 was added to Microcephaly. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762; 36562171\nPhenotypes for gene: SLC31A1 were set to Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-10-30T10:15:58.659300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.398",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-10-30T10:15:08.145017+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.590",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-10-30T10:14:15.658438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-10-30T10:06:32.242361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3490",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-10-29T21:05:06.108706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3490",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: DIP2B_FRA12A_CGG were set to 17236128",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T21:05:03.416272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.398",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: DIP2B_FRA12A_CGG were set to 17236128",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T21:04:18.666244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: DIP2B_FRA12A_CGG: Added comment: Unsure about the expansions association with disease due to variable phenotypes and possible incomplete penetrance PMID 17236128, 39854091, and 41028987 report 23 unrelated families with heterozygous CGG repeat expansions in the 5′UTR of DIP2B. Sixteen families present with intellectual disability associated with the FRA12A fragile site, while seven families (including two siblings, five ataxia probands, and one dystonia case) exhibit neurodevelopmental disability with progressive movement disorders (chorea, dystonia, ataxia). Functional studies demonstrate reduced DIP2B expression via promoter hypermethylation. Segregation analysis shows segregation from unaffected parents (possibly reduced penetrance) and de novo events. DIP2B expansion OR 2.8 (p=0.04) in ataxia cohort (5/788) vs gnomAD.; Changed publications: 17236128, 33510257, 39854091, 41028987; Changed phenotypes: intellectual disability, FRA12A type MONDO:0007634",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T21:04:15.685693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3489",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: DIP2B_FRA12A_CGG: Added comment: Unsure about the expansions association with disease due to variable phenotypes and possible incomplete penetrance PMID 17236128, 39854091, and 41028987 report 23 unrelated families with heterozygous CGG repeat expansions in the 5′UTR of DIP2B. Sixteen families present with intellectual disability associated with the FRA12A fragile site, while seven families (including two siblings, five ataxia probands, and one dystonia case) exhibit neurodevelopmental disability with progressive movement disorders (chorea, dystonia, ataxia). Functional studies demonstrate reduced DIP2B expression via promoter hypermethylation. Segregation analysis shows segregation from unaffected parents (possibly reduced penetrance) and de novo events. DIP2B expansion OR 2.8 (p=0.04) in ataxia cohort (5/788) vs gnomAD.; Changed publications: 17236128, 33510257, 39854091, 41028987; Changed phenotypes: intellectual disability, FRA12A type MONDO:0007634",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T21:02:48.375344+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for STR: DIP2B_FRA12A_CGG were changed from Mental retardation, FRA12A type MIM#136630 to intellectual disability, FRA12A type MONDO:0007634",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T21:02:39.299461+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: DIP2B_FRA12A_CGG were set to 17236128; 39854091; 33510257",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T21:02:12.775372+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: DIP2B_FRA12A_CGG: Added comment: Unsure about the expansions association with disease due to variable phenotypes and possible incomplete penetrance\r\nPMID 17236128, 39854091, and 41028987 report 23 unrelated families with heterozygous CGG repeat expansions in the 5′UTR of DIP2B. Sixteen families present with intellectual disability associated with the FRA12A fragile site, while seven families (including two siblings, five ataxia probands, and one dystonia case) exhibit neurodevelopmental disability with progressive movement disorders (chorea, dystonia, ataxia). Functional studies demonstrate reduced DIP2B expression via promoter hypermethylation. Segregation analysis shows segregation from unaffected parents (possibly reduced penetrance) and de novo events. DIP2B expansion OR 2.8 (p=0.04) in ataxia cohort (5/788) vs gnomAD.; Changed publications: 17236128, 33510257, 39854091, 41028987; Changed phenotypes: intellectual disability, FRA12A type\tMONDO:0007634",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-10-29T20:48:49.306077+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP74 as ready",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:48:49.294972+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap74 has been classified as Green List (High Evidence).",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:45:44.613011+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CFAP74 from panel Ciliary Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-10-29T20:45:44.412714+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP74 was added\ngene: CFAP74 was added to Heterotaxy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP74 were set to 32555313; 41078601; 39362668; 36459505\nPhenotypes for gene: CFAP74 were set to ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:43:47.416883+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP74 were changed from ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353 to ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:43:06.121385+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP74 were changed from Primary ciliary dyskinesia; infertility to ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:41:34.130799+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP74 were set to 32555313",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:40:38.581323+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP74 as Green List (high evidence)",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:40:38.573900+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap74 has been classified as Green List (High Evidence).",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:40:10.553262+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP74 as Green List (high evidence)",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:40:10.542732+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap74 has been classified as Green List (High Evidence).",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:39:11.614052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP74 were changed from Primary ciliary dyskinesia; infertility to ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:38:30.384241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP74 as Green List (high evidence)",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:38:30.374066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap74 has been classified as Green List (High Evidence).",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:37:41.956702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM15 as ready",
"entity_name": "RBM15",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:37:41.947226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm15 has been classified as Red List (Low Evidence).",
"entity_name": "RBM15",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:37:29.569601+11:00",
"panel_name": "Mirror movements",
"panel_id": 3696,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM15 as ready",
"entity_name": "RBM15",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:37:29.559354+11:00",
"panel_name": "Mirror movements",
"panel_id": 3696,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm15 has been classified as Red List (Low Evidence).",
"entity_name": "RBM15",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:42.973904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSPO as ready",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:42.963355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:33.846135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSPO as Green List (high evidence)",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:33.835627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:32.630952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSPO as Green List (high evidence)",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:32.623198+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:11.936181+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSPO as ready",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:36:11.927518+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:35:48.622113+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSPO as Green List (high evidence)",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:35:48.607482+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:34:50.918600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSPO as Green List (high evidence)",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:34:50.910874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:34:34.985586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSPO as ready",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:34:34.977393+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:34:23.102867+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSPO as Green List (high evidence)",
"entity_name": "SSPO",
"entity_type": "gene"
},
{
"created": "2025-10-29T20:34:23.088382+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sspo has been classified as Green List (High Evidence).",
"entity_name": "SSPO",
"entity_type": "gene"
}
]
}