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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=127",
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"results": [
{
"created": "2025-11-20T10:06:59.305637+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: crh has been classified as Red List (Low Evidence).",
"entity_name": "CRH",
"entity_type": "gene"
},
{
"created": "2025-11-20T10:06:54.465681+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CRH was added\ngene: CRH was added to Genetic Epilepsy. Sources: ClinGen\nrefuted tags were added to gene: CRH.\nMode of inheritance for gene: CRH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRH were set to Epilepsy, MONDO:0005027\nReview for gene: CRH was set to RED\nAdded comment: ClinGen REFUTED - Sep 2021 \nSources: ClinGen",
"entity_name": "CRH",
"entity_type": "gene"
},
{
"created": "2025-11-20T09:53:55.974340+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.152",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: BLK.",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2025-11-20T09:53:20.526130+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: ADRA2B.",
"entity_name": "ADRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-20T09:53:11.736234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3577",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: ADRA2B.",
"entity_name": "ADRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-20T09:52:50.158553+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: ADRA2B.",
"entity_name": "ADRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-20T08:41:53.796877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3577",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: PMID: 41132091 | Article describes four unrelated individuals with heterozygous de novo EXOSC10 variants (1x missense and 4x microdeletions within the 1p36 region) presenting with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice. \r\n\r\nHowever, these microdeletions occur within the 1p36 region, which is associated with chromosome 1p36 deletion syndrome (green in panelapp), and encompass many genes. \nSources: Literature; to: PMID: 41132091 | Article describes four unrelated individuals with heterozygous de novo EXOSC10 variants (1x missense and 4x microdeletions within the 1p36 region) presenting with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice. \r\n\r\nHowever, these microdeletions occur within the 1p36 region, which is associated with chromosome 1p36 deletion syndrome (green in Panelapp), and encompass many genes. \r\nSources: Literature",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-20T08:41:40.940083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3577",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: EXOSC10 was added\ngene: EXOSC10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXOSC10 were set to 41132091\nPhenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149, EXOSC10-related\nReview for gene: EXOSC10 was set to AMBER\nAdded comment: PMID: 41132091 | Article describes four unrelated individuals with heterozygous de novo EXOSC10 variants (1x missense and 4x microdeletions within the 1p36 region) presenting with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice. \r\n\r\nHowever, these microdeletions occur within the 1p36 region, which is associated with chromosome 1p36 deletion syndrome (green in panelapp), and encompass many genes. \nSources: Literature",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:43:07.870798+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID: 23988501, 12471200, 32954071, 33397327, 23396133, 32450155); Phenotypes: Onset at adolescent or adult age, arterial hypertension (in some patients), renal insufficiency, nephropathy, renal failure, polydipsia, polyuria, impaired urinary concentration, chronic interstitial nephritis, tubulointerstitial abnormalities, tubular atrophy, interstitial fibrosis, hyaline material deposited around tubules, thickening of the basement membrane, medullary cysts (in some patients), glomerulosclerosis (in some patients), glomerulocystic kidney disease (in some patients), dilatation of Bowman’s space in glomeruli, rudimentary glomerular tufts, gout, hyperuricemia, decreased urinary excretion of uromodulin, onset of hyperuricemia or gout in young adulthood, slowly progressive disorder.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:37:37.946690+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:37:20.806274+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID: 23396133, 29967284, 29156055); Phenotypes: Hypertension, impaired renal function, impaired renal creatinine clearance, impaired renal uric acid clearance, salt wasting, small kidneys, tubulointerstitial nephritis, tubulointerstitial fibrosis, interstitial inflammation, glomerulosclerosis, medullary cysts, corticomedullary cysts, tubular atrophy, cortical atrophy, disintegration of the tubular basement membrane, end-stage renal failure, gout, anemia, hyperuricemia, increased serum creatinine, decreased glomerular filtration rate (GFR), adult onset (range 34 to 66 years).; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:34:42.163011+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:34:25.324908+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 39114399, 38044981, 29576871, 33305128, 25700310, 22432796); Phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT), chronic renal failure, structural kidney abnormalities, unilateral kidney agenesis, renal cysts, renal hypoplasia, renal parenchymal disease, interstitial fibrosis, cortical atrophy, abnormal nephrogenesis, decreased numbers of glomeruli, enlarged glomeruli, glomerular tufts, glomerular cysts, oligomeganephronia, abnormal renal calyces, abnormal renal pelvises, pelviureteric junction obstruction, hypoplastic glomerulocystic kidney disease, reduced fractional excretion of uric acid, renal calculi, diabetes mellitus, impaired glucose tolerance, glucosuria, proteinuria, increased serum creatinine, hyperuricemia.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:30:25.101883+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:26:39.067595+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 40442642, 35257260, 27574708, 40442642, 36211619, and many more); Phenotypes: Progressive loss of vision, photosensitivity, hepatic failure (not common), progressive myoclonic epilepsy, generalized tonic-clonic seizures, absence seizures, simple partial occipital seizures, simple partial seizures with secondary generalization, myoclonus, ataxia, progressive dementia, neurological deterioration, loss of ambulation, intracellular PAS-positive polyglucosan inclusion bodies (“Lafora bodies”), intracellular PAS-positive polyglucosan inclusion bodies (“Lafora bodies”) can be found in various tissues (brain, liver, muscle, heart, skin).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:17:40.348626+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: No publications showing an association between pathogenic variants of the CTSF gene and progressive myoclonic epilepsy (PME); Phenotypes: : Progressive cognitive decline, dementia, motor abnormalities, tremor, ataxia, dysarthria, cerebellar signs, extrapyramidal signs, myoclonus, perioral dyskinesias, hyperreflexia, extensor plantar responses, primitive reflexes, seizures, diffuse cerebral atrophy, cerebellar atrophy, accumulation of autofluorescent material in neurons, behavioral changes, emotional lability, depression, skin fibroblasts showing osmiophilic cytoplasmic inclusions.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2025-11-20T00:14:49.609771+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: No publications showing an association between this gene and progressive myoclonic epilepsy (PME); Phenotypes: Microcephaly, sloping forehead, low-set ears, progressive loss of vision, retinitis pigmentosa, retinal atrophy, broad nasal bridge, apnea, respiratory failure, overriding sutures, obliterated fontanelles, intracellular granular osmiophilic deposits, spasticity, rigidity, seizures, status epilepticus, ataxia, some patients may show normal early development, cognitive decline, severe intellectual disability, loss of motor functions, MRI shows cerebral atrophy, MRI shows cerebellar atrophy, neuronal loss in the cerebrum and cerebellum, glial activation, white matter lacks axons and myelin, autofluorescent lipopigment in neurons, granular osmiophilic cytoplasmic deposits in Schwann cells, myelin-like lamellar structures in Schwann cells.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:55:45.026587+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 30741402, 26443629, 29422019, 17129765); Phenotypes: Progressive vision loss, developmental regression, seizures, ataxia, speech and language difficulties, myoclonus, EEG abnormalities, cerebral atrophy, cerebellar atrophy, autofluorescent lipopigment in neurons, intracellular fingerprint profiles on ultrastructural analysis, intracellular curvilinear profiles on ultrastructural analysis, onset at 2 to 7 years of age, most patients lose ambulation two years after onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:52:25.187167+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 21549341, 30561534, 33024953, 34597687); Phenotypes: Seizures, cerebellar ataxia, extrapyramidal signs, myoclonus, dementia, cerebral atrophy, autofluorescent lipopigment in neurons, leukoencephalopathy on CT and MRI, behavioral changes, depression, auditory and visual hallucinations, granular osmiophilic deposits (GROD) in cells resulting in “fingerprint” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “curvilinear” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “rectilinear” profiles ultrastructurally, onset in adulthood (third to fourth decade).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:47:43.494588+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 20157158, 41003830, 39667065, 22532218, 32983231); Phenotypes: Onset at 4 to 7 years, progressive vision loss, retinal degeneration, nystagmus, clumsiness, motor deterioration, developmental regression, ataxia, dysarthria, dysmetria, dysdiadochokinesis, seizures, myoclonus, intellectual disability, cognitive impairment, neurophysiologic abnormalities (EEG, VEP, SEP), characteristic findings on MRI, autofluorescent lipopigment in neurons, cerebellar atrophy (in one family), concentration difficulties, “fingerprint” profiles ultrastructurally, “curvilinear” profiles ultrastructurally, “rectilinear” profiles ultrastructurally.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:45:31.345028+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 9311735, 24827497, 21990111, 31568712, 30884409); Phenotypes: Onset at 4 to 10 years, progressive vision loss (4 to 10 years), blindness (6 to 14 years), retinitis pigmentosa, macular degeneration, optic atrophy, abolished electroretinogram (ERG), glaucoma, lens-induced, cataract, juvenile-onset mature, concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases), autophagic vacuoles seen on biopsy (in some patients), intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients), psychomotor degeneration, intellectual disability, dementia, extrapyramidal signs, myoclonus, parkinsonism, cerebellar signs, progressive inability to walk, seizures, dysarthria, autofluorescent lipopigment in neurons, cerebral atrophy, difficulty in school, behavioural changes, mood disturbances, anxiety, psychosis, vacuolated lymphocytes, lipopigment in extraneuronal cells, “fingerprint profiles” ultrastructurally in cells, “curvilinear profiles” ultrastructurally in cells.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:38:47.991654+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:38:34.096700+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:38:06.681505+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:37:57.052968+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:37:27.355062+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:33:48.116233+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: No publication showing an association between this gene and progressive myoclonic epilepsy (PME); Phenotypes: Microcephaly, sloping forehead, low-set ears, progressive loss of vision, retinitis pigmentosa, retinal atrophy, broad nasal bridge, apnea, respiratory failure, overriding sutures, obliterated fontanelles, intracellular granular osmiophilic deposits, spasticity, rigidity, seizures, status epilepticus, ataxia, some patients may show normal early development, cognitive decline, severe intellectual disability, loss of motor functions, MRI shows cerebral atrophy, MRI shows cerebellar atrophy, neuronal loss in the cerebrum and cerebellum, glial activation, white matter lacks axons and myelin, autofluorescent lipopigment in neurons, granular osmiophilic cytoplasmic deposits in Schwann cells, myelin-like lamellar structures in Schwann cells.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:28:05.204600+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 30741402, 26443629, 29422019, 17129765); Phenotypes: Progressive vision loss, developmental regression, seizures, ataxia, speech and language difficulties, myoclonus, EEG abnormalities, cerebral atrophy, cerebellar atrophy, autofluorescent lipopigment in neurons, intracellular fingerprint profiles on ultrastructural analysis, intracellular curvilinear profiles on ultrastructural analysis, onset at 2 to 7 years of age, most patients lose ambulation two years after onset.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:26:08.936862+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 21549341, 30561534, 33024953, 34597687); Phenotypes: Seizures, cerebellar ataxia, extrapyramidal signs, myoclonus, dementia, cerebral atrophy, autofluorescent lipopigment in neurons, leukoencephalopathy on CT and MRI, behavioral changes, depression, auditory and visual hallucinations, granular osmiophilic deposits (GROD) in cells resulting in “fingerprint” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “curvilinear” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “rectilinear” profiles ultrastructurally, onset in adulthood (third to fourth decade).; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:21:46.251039+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 20157158, 41003830, 39667065, 22532218, 32983231); Phenotypes: Onset at 4 to 7 years, progressive vision loss, retinal degeneration, nystagmus, clumsiness, motor deterioration, developmental regression, ataxia, dysarthria, dysmetria, dysdiadochokinesis, seizures, myoclonus, intellectual disability, cognitive impairment, neurophysiologic abnormalities (EEG, VEP, SEP), characteristic findings on MRI, autofluorescent lipopigment in neurons, cerebellar atrophy (in one family), concentration difficulties, “fingerprint” profiles ultrastructurally, “curvilinear” profiles ultrastructurally, “rectilinear” profiles ultrastructurally; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:16:12.572489+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 9311735, 24827497, 21990111, 31568712, 30884409); Phenotypes: Onset at 4 to 10 years, progressive vision loss (4 to 10 years), blindness (6 to 14 years), retinitis pigmentosa, macular degeneration, optic atrophy, abolished electroretinogram (ERG), glaucoma, lens-induced, cataract, juvenile-onset mature, concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases), autophagic vacuoles seen on biopsy (in some patients), intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients), psychomotor degeneration, intellectual disability, dementia, extrapyramidal signs, myoclonus, parkinsonism, cerebellar signs, progressive inability to walk, seizures, dysarthria, autofluorescent lipopigment in neurons, cerebral atrophy, difficulty in school, behavioural changes, mood disturbances, anxiety, psychosis, vacuolated lymphocytes, lipopigment in extraneuronal cells, “fingerprint profiles” ultrastructurally in cells, “curvilinear profiles” ultrastructurally in cells.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:06:40.582924+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID: 23988501, 12471200, 32954071, 33397327, 23396133, 32450155); Phenotypes: Onset at adolescent or adult age, arterial hypertension (in some patients), renal insufficiency, nephropathy, renal failure, polydipsia, polyuria, impaired urinary concentration, chronic interstitial nephritis, tubulointerstitial abnormalities, tubular atrophy, interstitial fibrosis, hyaline material deposited around tubules, thickening of the basement membrane, medullary cysts (in some patients), glomerulosclerosis (in some patients), glomerulocystic kidney disease (in some patients), dilatation of Bowman’s space in glomeruli, rudimentary glomerular tufts, gout, hyperuricemia, decreased urinary excretion of uromodulin, onset of hyperuricemia or gout in young adulthood, slowly progressive disorder.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-19T23:00:58.024500+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID: 23396133, 29967284, 29156055); Phenotypes: Hypertension, impaired renal function, impaired renal creatinine clearance, impaired renal uric acid clearance, salt wasting, small kidneys, tubulointerstitial nephritis, tubulointerstitial fibrosis, interstitial inflammation, glomerulosclerosis, medullary cysts, corticomedullary cysts, tubular atrophy, cortical atrophy, disintegration of the tubular basement membrane, end-stage renal failure, gout, anemia, hyperuricemia, increased serum creatinine, decreased glomerular filtration rate (GFR), adult onset (range 34 to 66 years).; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T22:48:56.789271+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Noor Al-Ali",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 39114399, 38044981, 29576871, 33305128, 25700310, 22432796); Phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT), chronic renal failure, structural kidney abnormalities, unilateral kidney agenesis, renal cysts, renal hypoplasia, renal parenchymal disease, interstitial fibrosis, cortical atrophy, abnormal nephrogenesis, decreased numbers of glomeruli, enlarged glomeruli, glomerular tufts, glomerular cysts, oligomeganephronia, abnormal renal calyces, abnormal renal pelvises, pelviureteric junction obstruction, hypoplastic glomerulocystic kidney disease, reduced fractional excretion of uric acid, renal calculi, diabetes mellitus, impaired glucose tolerance, glucosuria, proteinuria, increased serum creatinine, hyperuricemia.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-19T18:54:34.049305+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T18:54:34.042263+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T18:54:30.165612+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, MIM# 609308",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T18:54:05.570075+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T18:53:41.082105+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, MIM# 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:28:38.377527+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KC1 as ready",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:28:38.370745+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kc1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:28:02.744686+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KC1 as ready",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:28:02.737348+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kc1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:26:42.111564+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KC1 as ready",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:26:42.101245+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kc1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:26:24.701636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KC1 as ready",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:26:24.694798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kc1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:26:01.663634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KC1 as ready",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:26:01.647384+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6kc1 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KC1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:24:52.496350+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STARD9 as ready",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:24:52.489572+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stard9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:24:25.398968+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene STARD9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T17:24:25.101689+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STARD9 was added\ngene: STARD9 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: STARD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STARD9 were set to 41137852; 28777490\nPhenotypes for gene: STARD9 were set to Syndromic disorder (MONDO:0002254), STARD9-related",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:22:00.543490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STARD9 as ready",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:22:00.536262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stard9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STARD9",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:20:10.585325+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:20:10.577133+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Green List (High Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:19:58.832431+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:19:23.891647+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:18:59.824048+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:17:09.663244+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:17:09.653444+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:17:06.597683+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:16:35.864114+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:16:10.207061+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMGNT2 as Amber List (moderate evidence)",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:16:10.197070+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:15:45.888247+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:12:39.688122+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:12:39.680410+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:12:37.059181+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:12:03.754018+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:11:39.232828+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:10:25.132883+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD2 as ready",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:10:25.122041+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod2 has been classified as Green List (High Evidence).",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:10:21.165475+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:09:53.195387+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD2 were set to ",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:09:25.643410+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:08:23.127369+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PLOD2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T17:07:00.200840+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:03:17.672900+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PLOD2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-19T17:01:20.671881+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD1 as ready",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:01:20.663757+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod1 has been classified as Red List (Low Evidence).",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T17:01:16.359198+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD1 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:57:52.088963+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:57:28.467285+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLOD1 as Red List (low evidence)",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:57:28.460003+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod1 has been classified as Red List (Low Evidence).",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:56:59.704879+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLOD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:54:38.881736+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PFKM as ready",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:54:38.872066+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pfkm has been classified as Green List (High Evidence).",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:54:36.550312+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PFKM were changed from to Glycogen storage disease VII (MIM#232800)",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:54:12.625809+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PFKM were set to ",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:53:49.973679+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PFKM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:53:25.586991+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 7794557; Phenotypes: Glycogen storage disease VII (MIM#232800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:50:53.732658+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:50:53.725073+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:50:50.072528+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from to Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:50:24.006949+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:49:57.042084+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:49:27.303541+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2025-11-19T16:45:21.180574+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
}
]
}