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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1134",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1132",
"results": [
{
"created": "2021-11-11T17:35:49.041682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf2 has been classified as Green List (High Evidence).",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:35:45.257370+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C21orf2 were changed from Axial Spondylometaphyseal Dysplasia to Spondylometaphyseal dysplasia, axial, MIM# 602271",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:35:30.643278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf2 were set to ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:35:14.985073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\nNew HGNC approved name is CFAP410.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.\r\n\r\nNew HGNC approved name is CFAP410.\r\n\r\nThoracic hypoplasia is present at birth so relevant to this panel.",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2021-11-11T17:14:10.732214+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.58",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31627847, 31924696; Phenotypes: Arrhythmogenic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:53:12.705015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9703",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MICAL1 as Amber List (moderate evidence)",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:53:12.695518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9703",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mical1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:52:28.290659+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MICAL1 as ready",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:52:28.281128+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mical1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:49:32.114116+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MICAL1 as Amber List (moderate evidence)",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:49:32.103746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mical1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:49:10.560762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9702",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MICAL1 was added\ngene: MICAL1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MICAL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MICAL1 were set to 29394500; 21638339\nPhenotypes for gene: MICAL1 were set to Autosomal dominant epilepsy with auditory features (ADEAF)\nReview for gene: MICAL1 was set to AMBER\nAdded comment: Two families with supporting in vitro functional assays. Assessment of expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model, suggests Mical-1 may associate with inner pathophysiological modulation in epilepsy. \nSources: Expert list",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:48:22.112368+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1382",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MICAL1 as Amber List (moderate evidence)",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:48:22.103641+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1382",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mical1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:47:31.610064+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MICAL1 was added\ngene: MICAL1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: MICAL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MICAL1 were set to 29394500; 21638339\nPhenotypes for gene: MICAL1 were set to Autosomal dominant epilepsy with auditory features (ADEAF)\nReview for gene: MICAL1 was set to AMBER\nAdded comment: Two families with supporting in vitro functional assays. Assessment of expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model, suggests Mical-1 may associate with inner pathophysiological modulation in epilepsy. \nSources: Expert list",
"entity_name": "MICAL1",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:00:25.997203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCN9A as Red List (low evidence)",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:00:25.992353+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Epilepsy GCEP curated gene-disease association with epilepsy: A novel publication provides evidence against pathogenicity for a previously reported variant providing the primary evidence for an association with epilepsy. Classification - 03/09/2021",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:00:25.958019+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Red List (Low Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:49:03.495820+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CPA6 as Red List (low evidence)",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:49:03.491579+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:49:03.457604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpa6 has been classified as Red List (Low Evidence).",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:47:55.030303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9701",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CPA6 as Red List (low evidence)",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:47:54.999173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9701",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:47:54.949025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9701",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpa6 has been classified as Red List (Low Evidence).",
"entity_name": "CPA6",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:32:12.557886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9700",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CNTN2 were set to 23518707",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:29:38.537276+11:00",
"panel_name": "Vascular Malformations SuperPanel",
"panel_id": 3731,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Vasculopathy SuperPanel to Vascular Malformations SuperPanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-11-11T15:28:58.966395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9699",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNTN2 as Amber List (moderate evidence)",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:28:58.955690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9699",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:26:46.898982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9698",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23518707, 34120799, 34691156; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:26:35.453992+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:24:37.532191+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:24:24.585148+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:23:50.318281+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:23:13.057835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:23:00.514672+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CNTN2 as ready",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:23:00.496652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:22:48.110639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:22:40.616526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNTN2 as Amber List (moderate evidence)",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:22:40.606456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T15:21:59.428393+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1377",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23518707, 34120799, 34691156; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN2",
"entity_type": "gene"
},
{
"created": "2021-11-11T10:44:52.485482+11:00",
"panel_name": "Vasculopathy SuperPanel",
"panel_id": 3731,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Vascular Malformations_Germline; Vascular Malformations_Somatic; Mosaic skin disorders; Lymphoedema_nonsyndromic; Lymphoedema_syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-11-10T18:38:52.579448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:38:52.569211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Red List (Low Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:38:49.103331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM# 615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:38:37.649362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:38:26.897360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C12orf65 as Red List (low evidence)",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:38:26.883290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Red List (Low Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:38:14.269840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: None; Publications: 32478789; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:57.769914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C11orf70 as ready",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:57.759775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c11orf70 has been classified as Green List (High Evidence).",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:48.548493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, MIM# 618063",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:17.286022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BUB1B as ready",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:17.275232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:13.550692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1B were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 to Mosaic variegated aneuploidy syndrome 1, MIM# 257300",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:31:01.506307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BUB1B were set to ",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:30:48.324845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:29:04.071119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTD as ready",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:29:04.048786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Red List (Low Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:29:00.511497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTD were changed from BIOTINIDASE DEFICIENCY to Biotinidase deficiency, MIM# 253260",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:28:42.817666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTD as Red List (low evidence)",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:28:42.807412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Red List (Low Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-11-10T18:28:29.902358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BTD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM# 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-11-10T10:44:11.587987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSND as ready",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-11-10T10:44:11.578180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsnd has been classified as Green List (High Evidence).",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-11-10T10:44:07.783235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSND were changed from BARTTER SYNDROME TYPE 4A to Bartter syndrome, type 4a, MIM#602522",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-11-10T10:43:53.065552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; to: Can present antenatally with polyhydramnios.",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-11-10T10:43:36.337247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-11-10T10:43:27.526271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BSND: Changed rating: GREEN",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:31:46.203582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADSSL1 as ready",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:31:46.191953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adssl1 has been classified as Green List (High Evidence).",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:31:36.379957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from to Myopathy, distal, 5, MIM#617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:31:16.617881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to ",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:30:52.658862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADSSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:30:35.840584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26506222; Phenotypes: Myopathy, distal, 5, MIM#617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:27:27.536721+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC9 as Green List (high evidence)",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:27:27.508362+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:27:02.950617+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:00:08.745122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRPF1 as ready",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:00:08.734362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brpf1 has been classified as Green List (High Evidence).",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-11-10T09:00:03.626643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRPF1 were changed from BRPF1 associated syndromic intellectual disability with ptosis to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:59:50.080537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRPF1 were set to ",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:59:38.776678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRPF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:59:26.232259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.; to: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.\r\n\r\nIUGR reported in some.",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:58:39.490222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple congenital anomaly syndrome.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:58:22.877711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:58:22.867416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:58:18.680270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP J to Fanconi anemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:57:56.667544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:57:56.656485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:57:52.966705+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 to Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:57:36.606086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single affected individual reported, although FA is a multiple congenital anomaly syndrome. \nSources: Literature; to: Well established gene-disease association, FA is a multiple congenital anomaly syndrome. \r\nSources: Literature",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:56:53.568801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRCA2: Changed rating: GREEN; Changed phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:56:18.106812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAT1 as ready",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:56:18.096555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:56:10.548250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:55:52.264309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAT1 were set to ",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:55:31.767679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:55:08.028616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene. \nSources: Expert list; to: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS), without obvious genotype-phenotype associations.\r\n\r\nMultiple families reported with each.",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:54:36.218530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRAT1: Changed publications: 26483087, 26494257, 27282546, 22279524, 23035047, 25319849, 25500575, 34747546; Changed phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056, Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:52:43.803389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAT1 as ready",
"entity_name": "BRAT1",
"entity_type": "gene"
}
]
}