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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=619",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=617",
"results": [
{
"created": "2023-04-04T16:09:19.444047+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:09:04.694466+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC3 as Red List (low evidence)",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:09:04.683255+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Red List (Low Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:06:39.647640+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECM1 as Green List (high evidence)",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-04-04T16:06:39.618841+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecm1 has been classified as Green List (High Evidence).",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-04-04T14:50:09.747975+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: FAM111A was added\ngene: FAM111A was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111A were set to 32734340; 23996431; 35205306\nPhenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000\nReview for gene: FAM111A was set to GREEN\nAdded comment: PMID 32734340 reports 3 unrelated patients with FAM111A variants who developed calcification in the basal ganglia. Co-segregation is supported by pedigrees that contain parents and unaffected siblings.\r\nPMID 35205306 reports a patient with a novel FAM111A variant who developed calcification in the basal ganglia and the thalamic region. The FAM111A variant caused Osteocraniostenosis (OCS, OMIM #602361), which is an allelic disorder sharing some common features with Kenny-Caffey syndrome. \nSources: Expert list",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2023-04-04T14:13:48.597296+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17092472, 20522568; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-04-04T11:56:06.437355+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17092472, 20522568; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-04-04T10:52:18.801991+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC5 were set to 20301571; 26884178\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G; Cockayne syndrome, MIM# 278780\nReview for gene: ERCC5 was set to RED\nAdded comment: PMID 26884178 reports 2 siblings with the same ERCC5 variant who developed bilateral globus pallidus and posterior periventricular white matter calcification. \nSources: Expert list",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2023-04-04T10:51:19.905203+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-04-04T10:35:25.762082+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "edited their review of gene: ERCC3: Changed phenotypes: Xeroderma pigmentosum, group B, MIM# 610651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2023-04-04T10:35:00.635332+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 16947863; 20301571\nReview for gene: ERCC3 was set to RED\nAdded comment: PMID 20301571 reports 2 unrelated patients with ERCC3 variants who developed brain calcification. \nSources: Expert list",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2023-04-04T10:25:13.110997+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "edited their review of gene: ECM1: Changed rating: GREEN",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-04-04T10:24:37.669527+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: ECM1 was added\ngene: ECM1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECM1 were set to 27398129; 26336196; 12603844\nPhenotypes for gene: ECM1 were set to Urbach-Wiethe disease, MIM# 247100\nReview for gene: ECM1 was set to AMBER\nAdded comment: Although reported cases with ECM1 status are limited, Urbach-Wiethe disease is commonly associated with brain calcification.\r\nPMID 27398129 reports a patient with calcifications in both the hippocampi and amygdala. The patient was confirmed to have Urbach-Wiethe syndrome by skin biopsy. However, the paper does not explicitly mention whether genetic testing of the ECM1 gene or genomics testing was done for the patient.\r\n\r\nPMID 26336196 reports 2 siblings diagnosed to have Urbach-Wiethe syndrome who developed bilateral basal ganglia calcification. The method of diagnosis and patients' ECM1 status is not mentioned.\r\n\r\nPMID 12603844 reports unrelated 3 patients with ECM1 variants who developed temporal lobe calcification. \nSources: Expert list",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2023-04-04T10:22:50.953353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.757",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25262651; Phenotypes: developmental and epileptic encephalopathy (MONDO:0100062); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2023-04-04T09:46:54.662097+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Well established rare cause of Alzheimer Disease. \r\n\r\nPMID: 10652366: In vitro functional assay shows that a mutation in the PSEN2 gene causes an effect to the endoproteolytic processing of the transmembrane protein thus a loss of function to the transmembrane protein.\r\n\r\nPMID: 7638622: (Article refers to gene in previously terminology of STM2)\r\nN141I founder mutation was identified in 20 individuals from 5 Volgan German families.\r\nThe point mutation is present in the conserved human and mouse homolog (S182). \r\n\r\nPMID: 12925374: A spanish individual identified with a T430M mutation (a common variant reported in the Latino/Admixed American population but at a low frequency [PopMax AF 0.01%]).; to: Well established rare cause of Alzheimer Disease. \r\n\r\nPMID: 10652366: In vitro functional assay shows that a mutation in the PSEN2 gene causes an effect to the endoproteolytic processing of the transmembrane protein thus a loss of function to the transmembrane protein.\r\n\r\nPMID: 7638622: (Article refers to gene in previously terminology of STM2)\r\nN141I founder mutation was identified in 20 individuals from 5 Volgan German families.\r\nThe point mutation is present in the conserved human and mouse homolog (S182). \r\n\r\nPMID: 12925374: A spanish individual identified with a T430M mutation (a common variant reported in the Latino/Admixed American population but at a low frequency [PopMax AF 0.01%]).",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-04-04T09:46:43.166803+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10652366, 7638622, 7651536, 12925374; Phenotypes: Alzheimer Disease type 4 (MONDO:0011743, MIM#606889); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-04-03T16:50:01.423323+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301340, 7596406, 16033913; Phenotypes: Alzheimer disease, type 3 (MONDO:0011913, MIM#607822); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-04-03T15:58:46.042924+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.93",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: CRIPT: Changed rating: AMBER",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2023-04-03T14:41:25.090725+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.1",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Mosaic skin disorders. Sources: Other\nMode of inheritance for gene: GJA1 was set to Unknown\nPublications for gene: GJA1 were set to 27890787\nPhenotypes for gene: GJA1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN)\nMode of pathogenicity for gene: GJA1 was set to Other\nReview for gene: GJA1 was set to RED\nAdded comment: Only published in one article.\r\nSomatic mutation p.A44V identified in one individual with ILVEN. \nSources: Other",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-03T14:38:45.360748+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.1",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CARD14: Rating: AMBER; Mode of pathogenicity: Other; Publications: 34116062; Phenotypes: Inflammatory linear verrucous epidermal naevus (ILVEN); Mode of inheritance: None",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2023-04-03T14:30:09.377400+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.1",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CSPP1 was added\ngene: CSPP1 was added to Mosaic skin disorders. Sources: Other\nMode of inheritance for gene: CSPP1 was set to Unknown\nPublications for gene: CSPP1 were set to https://doi.org/10.1016/S2096-6911(21)00044-3\nPhenotypes for gene: CSPP1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN)\nMode of pathogenicity for gene: CSPP1 was set to Other\nReview for gene: CSPP1 was set to RED\nAdded comment: Only one Chinese journal published relating to ILVEN - not on pubmed \r\n1 somatic heterozygous mutation (R698X) was identified in a 10yr old individual. \nSources: Other",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:19:11.973049+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC31A1 as ready",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:19:11.958361+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc31a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:19:03.039408+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC31A1 as Amber List (moderate evidence)",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:19:03.028340+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc31a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:18:33.126411+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC31A1 was added\ngene: SLC31A1 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to 35913762; 36562171\nPhenotypes for gene: SLC31A1 were set to Neurodegeneration and seizures due to copper transport defect, MIM# 620306\nReview for gene: SLC31A1 was set to AMBER\nAdded comment: PMID:36562171\r\nHomozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.\r\n\r\nPMID: 35913762\r\nSLC31A1 is also referred to as CTR1.\r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert Review",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:10:47.284299+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:10:29.117231+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; 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": "2023-04-03T13:10:03.265854+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:09:27.880168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC31A1: Changed phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T13:09:05.987723+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T12:25:00.148735+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC31A1 were set to PMID: 35913762",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T12:24:05.037788+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; 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": "2023-04-03T12:23:09.163439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-04-03T12:22:45.283543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC31A1: Changed phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2023-03-31T15:13:14.489147+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 9697698, 17020904, 12011299; Phenotypes: Generalized epilepsy with febrile seizures plus, type 1 (MONDO:0018214, MIM 604233); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2023-03-31T15:12:40.863394+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5193",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2023-03-31T15:10:38.674224+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5193",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 9697698, 17020904, 12011299; Phenotypes: Generalized epilepsy with febrile seizures plus, type 1 (MONDO:0018214, MIM 604233); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:37:54.561665+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RBM12: Rating: AMBER; Mode of pathogenicity: Other; Publications: 28628109, 36711667; Phenotypes: Schizophrenia 19 (MIM#617629); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:24:54.349538+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCSK9 as ready",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:24:54.338916+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcsk9 has been classified as Green List (High Evidence).",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:24:50.983989+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCSK9 were changed from to Familial Hypercholesterolemia 3 (MONDO:0011369; MIM# 603776); Low-density lipoprotein cholesterol level quantitative trait locus-1 (LDLCQ1; MIM# 603776)",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:24:23.236641+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCSK9 were set to ",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:23:53.735262+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCSK9 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:23:26.875493+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PCSK9.",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:55.264131+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR161 as ready",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:55.249705+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Red List (Low Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:50.105814+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPR161 as Red List (low evidence)",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:50.095904+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Red List (Low Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:40.715504+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: GPR161.",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:18.217667+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: CTR9.",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:10.648607+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTR9 as ready",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:10.634474+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctr9 has been classified as Red List (Low Evidence).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:05.401701+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTR9 as Red List (low evidence)",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-31T13:22:05.389859+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctr9 has been classified as Red List (Low Evidence).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:59:58.016814+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALK as ready",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:59:57.994895+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Red List (Low Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:59:52.794646+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: ALK.",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:59:47.080652+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALK as Red List (low evidence)",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:59:47.070181+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alk has been classified as Red List (Low Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:16:49.398157+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUFU were set to PMID: 29186568\nPhenotypes for gene: SUFU were set to {Medulloblastoma} MIM#155255\nPenetrance for gene: SUFU were set to Incomplete\nReview for gene: SUFU was set to RED\nAdded comment: Medullobastoma 1st year of life\r\nincomplete penetrance \r\nworse outcomes \r\nno determined screening protocol \nSources: Expert list",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-03-31T11:07:56.707883+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PAX5 was added\ngene: PAX5 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAX5 were set to PMID: 24013638\nPhenotypes for gene: PAX5 were set to {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545\nPenetrance for gene: PAX5 were set to Incomplete\nReview for gene: PAX5 was set to RED\nAdded comment: Incomplete penetrance \nSources: Expert list",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:54:57.327410+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24404629, 18354137, 12730697, 15654334, 16909389; Phenotypes: Familial Hypercholesterolemia 3 (MONDO:0011369, MIM# 603776), Low-density lipoprotein cholesterol level quantitative trait locus-1 (LDLCQ1, MIM# 603776); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:51:57.922443+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: GPR161 was added\ngene: GPR161 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPR161 were set to PMID: 31609649\nPhenotypes for gene: GPR161 were set to Medulloblastoma predisposition syndrome MIM#155255\nPenetrance for gene: GPR161 were set to Incomplete\nReview for gene: GPR161 was set to RED\nAdded comment: Increased risk of medulloblastoma at <3yrs\r\nAlso identified in population and healthy parents \nSources: Expert list",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:46:00.648852+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CTR9 was added\ngene: CTR9 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTR9 were set to PMID: 32412586\nPhenotypes for gene: CTR9 were set to Wilms tumour predisposition\nPenetrance for gene: CTR9 were set to Incomplete\nReview for gene: CTR9 was set to RED\nAdded comment: 9/14 germline variant developed Wilms (in 4 families)\r\nRed due to reduced penetrance \nSources: Expert list",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:36:32.616720+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ALK was added\ngene: ALK was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALK were set to PMID: 22071890\nPhenotypes for gene: ALK were set to {Neuroblastoma, susceptibility to, 3} MIM#613014\nPenetrance for gene: ALK were set to Incomplete\nReview for gene: ALK was set to RED\nAdded comment: Reduced penetrance \r\nNot clear guideline on management if detected \nSources: Expert list",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:19:45.146930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCK were changed from Autoinflammatory syndrome, MONDO:0019751, HCK-related to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:19:19.809921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCK: Changed phenotypes: Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:17:31.133254+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCK were changed from Autoinflammatory syndrome, MONDO:0019751, HCK-related to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2023-03-31T10:16:28.232434+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2023-03-30T17:50:01.458757+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Note that the gene was renamed from DJ1 to PARK7 (articles and OMIM reference our gene with previous name) \r\n\r\nVariants in PARK7 (DJ1) gene are a rare cause of Parkinson Disease and is currently only reported in 3 individuals from 3 unrelated families. \r\n\r\nPMID: 11462174; 11835383 – 2 individuals from 2 unrelated families with variants in DJ1 that were causative of Parkinson Disease. \r\n\r\nPMID: 16240358 – 3 affected sibs from a consanguineous Italian family; to: Note that the gene was renamed from DJ1 to PARK7 (articles and OMIM reference our gene with previous name) \r\n\r\nVariants in PARK7 (DJ1) gene are a rare cause of Parkinson Disease and is currently only reported in 3 individuals from 3 unrelated families. \r\n\r\nPMID: 11462174; 11835383 – 2 individuals from 2 unrelated families with variants in DJ1 that were causative of Parkinson Disease. \r\n\r\nPMID: 16240358 – 3 affected sibs from a consanguineous Italian family",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2023-03-30T17:48:16.665576+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 11462174, 11835383, 16240358, 20301402; Phenotypes: Parkinson Disease (MONDO:0005180, MIM: 606324); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:42:44.185939+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20428114, 31838784, 27493188; Phenotypes: Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:20:38.048807+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:20:38.038677+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Red List (Low Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:19:29.176918+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "edited their review of gene: AP1S2: Changed publications: 17617514",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:18:57.785054+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "changed review comment from: PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification.\r\nPMID 19161147 reports 8 individuals from 2 interrelated Omani families who developed brain calcification.; to: PMID 17617514 reports a linkage study of AP1S2 in 2 unrelated families with multiple generations affected by Fried syndrome. Cosegregation of the phenotype and AP1S2 variants is demonstrated. Two patients from the French family and 3 patients from the Scottish family developed brain calcification.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:14:02.830321+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DENND5A as Red List (low evidence)",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:14:02.821657+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Red List (Low Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:12:14.909306+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to 23176821",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:12:10.332568+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:12:10.323161+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:11:09.972033+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTC1 were set to 22267198; 22387016",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:10:10.613856+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Red List (low evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:10:10.605314+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-03-30T16:04:28.665794+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-03-30T15:25:57.602753+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: DENND5A was added\ngene: DENND5A was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DENND5A were set to 32734340; 27866705\nPhenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy 49, MIM# 617281\nReview for gene: DENND5A was set to RED\nAdded comment: Limited evidence supports a causal role of the DENND5A gene in brain calcification.\r\nPMID 27866705 reports that 3 individuals with DENND5A variants, who were from 2 families, developed brain calcification. Co-segregation of the DENND5A variant and pathogenic phenotype is confirmed by sequencing their parents and unaffected sibs. \nSources: Expert list",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2023-03-30T14:56:01.447176+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "changed review comment from: There is no sufficient evidence supporting a causal role of the COL4A2 gene in brain calcification. \r\nPMID 33247988 reports a patient with focal lesions with increased echogenicity in the right basal ganglia, which was suspected to result from either haemorrhage or calcification. However, the patient carries full duplications and deletions of COL4A1 and COL4A2, so it is likely that the brain calcification is not caused by COL4A2. \r\nPMID 33577044 summarises that 4 patients with COL4A2 developed brain calcification, including 1 case from PMID 21357838, 2 cases from PMID 30315939 and 1 from the present paper. This paper does not mention brain calcification found in the 2 reported cases. (Interestingly, there is a calculation mistake for the total number of patients with COL4A2 who had brain calcification. The sum should be 4 instead of 5.) \r\nNone of the patients reported by PMID 21357838 carried COL4A2 variants nor developed brain calcification. \r\nAlthough PMID 30315939 reports 2 patients with COL4A2 variants, they did not show any sign of calcification. \nSources: Expert list; to: There is no sufficient evidence supporting a causal role of the COL4A2 gene in brain calcification. \r\nPMID 33247988 reports a patient with focal lesions with increased echogenicity in the right basal ganglia, which was suspected to result from either haemorrhage or calcification. However, the patient carries full duplications and deletions of COL4A1 and COL4A2, so it is likely that the brain calcification is not caused by COL4A2. \r\nPMID 33577044 summarises that 4 patients with COL4A2 developed brain calcification, including 1 case from PMID 21357838, 2 cases from PMID 30315939 and 1 from the present paper. This paper does not mention brain calcification found in the 2 reported cases. (There is a calculation mistake for the total number of patients with COL4A2 who had brain calcification. The sum should be 4 instead of 5.) \r\nNone of the patients reported by PMID 21357838 carried COL4A2 variants nor developed brain calcification. \r\nAlthough PMID 30315939 reports 2 patients with COL4A2 variants, they did not show any sign of calcification. \r\nSources: Expert list",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-03-30T14:34:18.394996+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: ; Mode of pathogenicity: None; Publications: 30111349, 33107650, 23176821; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM# 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:58:04.900959+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.156",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:56:20.924477+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TUBB4B was added\ngene: TUBB4B was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4B were set to PMID: 29198720, 35240325\nPhenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness\tMIM#617879\nReview for gene: TUBB4B was set to RED\nAdded comment: The TUBB4B gene has been associated with autosomal dominant Leber congenital amaurosis with early-onset deafness \r\nNot consistently hearing phenotype <5years therefore excluded \nSources: Expert list",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:50:05.311831+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: SLITRK6 was added\ngene: SLITRK6 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: SLITRK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLITRK6 were set to PMID: 23543054, PMID: 25590127\nPhenotypes for gene: SLITRK6 were set to Deafness and myopia MIM#221200\nReview for gene: SLITRK6 was set to GREEN\nAdded comment: Congenital or prelingual deafness (SNHL or ANSD) \r\nhigh myopia \nSources: Expert list",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:45:15.190861+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: MPZL2 was added\ngene: MPZL2 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPZL2 were set to PMID: 29982980, 29961571, 35734045,33234333\nPhenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111 MIM#618145\nReview for gene: MPZL2 was set to RED\nAdded comment: Most cases are pre-lingual but 29961571, 35734045 report adult onset so I think should be excluded based on variability of age of onset \nSources: Expert list",
"entity_name": "MPZL2",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:42:40.415752+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LRRK2: 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: 20301387, 17200152, 15541308, 16172858; Phenotypes: Parkinson Disease type 8 (MONDO:0005180, MIM#607060); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:17:08.142657+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "changed review comment from: An additional case is found. \r\nPMID 22532422 reports a patient with a CTC1 variant who developed right-sided thalamic calcification. \r\n\r\nPMID 22899577 reports 4 patients with CTC1 variants who developed intracranial cysts or calcification; however, the exact number of patients who developed intracranial calcification is not specified.; to: An additional case is found. \r\nPMID 22532422 reports a patient with a CTC1 variant who developed right-sided thalamic calcification. \r\n\r\nPMID 22899577 reports 4 patients with CTC1 variants from 3 families who developed intracranial cysts or calcification; however, the exact number of patients who developed intracranial calcification is not specified.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:02:54.007110+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYM as ready",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2023-03-30T13:02:53.990330+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crym has been classified as Red List (Low Evidence).",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:59:16.883359+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRYM as Red List (low evidence)",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:59:16.875568+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crym has been classified as Red List (Low Evidence).",
"entity_name": "CRYM",
"entity_type": "gene"
}
]
}