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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1435",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1433",
"results": [
{
"created": "2021-01-25T11:28:36.069052+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH5A1 as Green List (high evidence)",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:28:36.058022+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:28:26.544997+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH5A1 were set to 9683595; 14635103; 32887777\nPhenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism\nReview for gene: ALDH5A1 was set to GREEN\ngene: ALDH5A1 was marked as current diagnostic\nAdded comment: Inborn error of gamma-aminobutyric acid metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:18:01.090606+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:18:01.075720+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:17:57.838006+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH4A1 as Green List (high evidence)",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:17:57.827876+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:17:44.342594+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH4A1 were set to 9700195; 31884946\nPhenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism\nReview for gene: ALDH4A1 was set to GREEN\ngene: ALDH4A1 was marked as current diagnostic\nAdded comment: At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism. \nSources: NHS GMS",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:05:45.047844+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:05:45.008549+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:05:34.199397+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Green List (high evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:05:34.189631+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:05:23.971122+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH3A2 were set to 8528251; 31273323\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism\nReview for gene: ALDH3A2 was set to GREEN\ngene: ALDH3A2 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry), and causes an inborn error of lipid metabolism. \nSources: NHS GMS",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-01-25T10:57:22.842506+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism. \nSources: NHS GMS; to: Well-established gene-disease association (see OMIM). Certain types of disease-causing variants alter proline/ornithine metabolism. \r\nSources: NHS GMS",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T10:56:41.434629+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH18A1 as ready",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T10:56:41.427318+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T10:56:38.511625+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH18A1 as Green List (high evidence)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T10:56:38.501183+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T10:56:26.338494+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALDH18A1 were set to 32221810; 11092761; 29754261; 26026163\nPhenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism\nReview for gene: ALDH18A1 was set to GREEN\ngene: ALDH18A1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism. \nSources: NHS GMS",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:58:24.048656+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-24T17:57:55.496986+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF1 as ready",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:57:55.486921+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Green List (High Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:57:44.059228+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXF1 as Green List (high evidence)",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:57:44.047256+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Green List (High Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:57:34.554726+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXF1 was added\ngene: FOXF1 was added to Pulmonary Arterial Hypertension. Sources: Expert Review\nMode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772\nPhenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380\nReview for gene: FOXF1 was set to GREEN\nAdded comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.\r\n\r\nOver 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain. \nSources: Expert Review",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:55:44.238168+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF1 as ready",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:55:44.230002+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Green List (High Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:42:11.649160+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXF1 as Green List (high evidence)",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:42:11.641413+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Green List (High Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:41:42.080749+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXF1 was added\ngene: FOXF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review\nMode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772\nPhenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380\nReview for gene: FOXF1 was set to GREEN\nAdded comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.\r\n\r\nOver 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain. \nSources: Expert Review",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:38:44.938138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.; to: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.\r\n\r\nOver 50 families reported.",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:38:23.473336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF1 as ready",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:38:23.466323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Green List (High Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:38:13.656987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:37:54.279826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXF1 were set to ",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:37:25.000032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T17:37:04.138859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-24T14:29:16.206602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6116",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23505205, 27071622, 27855150; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins (MIM#265380), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-01-22T20:01:49.693343+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T20:01:33.953439+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Miscellaneous Metabolic Disorders; Glycogen Storage Diseases; Peroxisomal Disorders; Vitamin C Pathway Disorders; Porphyria; Metabolic renal disease; Iron metabolism disorders; Hyperlipidaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T20:00:48.890291+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T19:09:21.598335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STEAP3 as ready",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:09:21.590497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:09:14.111754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STEAP3 were changed from to Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:08:54.275091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to ",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:08:35.379873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:08:18.156182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STEAP3 as Amber List (moderate evidence)",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:08:18.148007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: steap3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:08:00.366208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22031863, 25515317; Phenotypes: Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:02:17.799869+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEPH as ready",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:02:17.784288+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heph has been classified as Red List (Low Evidence).",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:02:15.158793+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEPH were changed from to Iron metabolism defect",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:02:08.153820+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEPH were set to ",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:01:59.688438+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEPH as Red List (low evidence)",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:01:59.680304+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: heph has been classified as Red List (Low Evidence).",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T19:01:10.414064+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEPH: Rating: RED; Mode of pathogenicity: None; Publications: 30182051, 30060949; Phenotypes: Iron metabolism defect; Mode of inheritance: None",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:45:02.359368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTH1 as ready",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:45:02.351016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Red List (Low Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:44:52.852003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTH1 was added\ngene: FTH1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FTH1 were set to 11389486\nPhenotypes for gene: FTH1 were set to Hemochromatosis, type 5, MIM# 615517\nReview for gene: FTH1 was set to RED\nAdded comment: One multi-generational family with 5' UTR variant. \nSources: Expert list",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:43:34.202323+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTH1 as ready",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:43:34.191837+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Red List (Low Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:43:21.263606+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: FTH1.",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:42:04.205767+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTH1 were changed from 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 to Hemochromatosis, type 5, MIM#\t615517",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:41:50.411263+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTH1 as Red List (low evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:41:50.399964+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Red List (Low Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:41:40.336015+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: None; Publications: 11389486; Phenotypes: Hemochromatosis, type 5, MIM# 615517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:37:16.120344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBRD1 as ready",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:37:16.109467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybrd1 has been classified as Red List (Low Evidence).",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:37:07.484623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYBRD1 was added\ngene: CYBRD1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CYBRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYBRD1 were set to 15338274\nPhenotypes for gene: CYBRD1 were set to Iron overload\nReview for gene: CYBRD1 was set to RED\nAdded comment: Paucity of publications. One of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad. \nSources: Expert list",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:35:31.729494+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBRD1 as ready",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:35:31.722312+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybrd1 has been classified as Red List (Low Evidence).",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:35:25.949532+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBRD1 were changed from Iron overload; NA IRON OVERLOAD; N/A Primary iron overload to Iron overload",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:35:15.529194+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYBRD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:34:26.316903+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYBRD1 as Red List (low evidence)",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:34:26.309481+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybrd1 has been classified as Red List (Low Evidence).",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:34:14.929807+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYBRD1: Rating: RED; Mode of pathogenicity: None; Publications: 15338274; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:24:54.677179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP6 as ready",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:24:54.669326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp6 has been classified as Green List (High Evidence).",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:24:45.684911+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BMP6 as Green List (high evidence)",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:24:45.674627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp6 has been classified as Green List (High Evidence).",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:24:22.567085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP6 was added\ngene: BMP6 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP6 were set to 26582087; 32464486\nPhenotypes for gene: BMP6 were set to Iron overload, mild to moderate\nReview for gene: BMP6 was set to GREEN\nAdded comment: More than 9 individuals reported with iron overload and variants in this gene. \nSources: Expert list",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:23:01.720036+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP6 as ready",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:23:01.688190+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp6 has been classified as Green List (High Evidence).",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:22:58.909207+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP6 were changed from 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD to Iron overload, mild to moderate",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:22:32.321510+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26582087, 32464486; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.683087+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STEAP3 was added\ngene: STEAP3 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service\nMode of inheritance for gene: STEAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: STEAP3 were set to 22031863\nPhenotypes for gene: STEAP3 were set to 615234 ?Anemia, hypochromic microcytic, with iron overload 2",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.629355+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEPH was added\ngene: HEPH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service\nMode of inheritance for gene: HEPH was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HEPH",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.575194+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTH1 was added\ngene: FTH1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service\nMode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FTH1 were set to 11389486\nPhenotypes for gene: FTH1 were set to 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.522032+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FECH was added\ngene: FECH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service\nMode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FECH were set to 20857522; 26387792; 28614581\nPhenotypes for gene: FECH were set to EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.468986+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS6 was added\ngene: TMPRSS6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS6 were set to 19357398; 18408718\nPhenotypes for gene: TMPRSS6 were set to IRIDA; 206200 Iron-refractory iron deficiency anemia; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA",
"entity_name": "TMPRSS6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.411483+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFR2 was added\ngene: TFR2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFR2 were set to 11313241; 10802645\nPhenotypes for gene: TFR2 were set to 604250 Hemochromatosis, type 3; HFE3; 604250 HEMOCHROMATOSIS, TYPE 3",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.358474+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TF was added\ngene: TF was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TF were set to 15466165; 11110675\nPhenotypes for gene: TF were set to 209300 Atransferrinemia; 209300 Atransferrinemia, Hypoferritinaemia",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.302202+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC40A1 was added\ngene: SLC40A1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC40A1 were set to 16351644; 11431687\nPhenotypes for gene: SLC40A1 were set to 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606069 Hemochromatosis, type 4",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.248039+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A38 was added\ngene: SLC25A38 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A38 were set to 21393332; 19412178; 24323989\nPhenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.195631+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC11A2 was added\ngene: SLC11A2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC11A2 were set to 16439678; 15459009; 16160008\nPhenotypes for gene: SLC11A2 were set to AHMIO1; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; DMT1-related anemia",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.132866+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HFE2 were set to 14982873\nPhenotypes for gene: HFE2 were set to HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.077703+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HFE were set to 18199861\nPhenotypes for gene: HFE were set to 235200 Hemochromatosis; 235200 HEMOCHROMATOSIS, TYPE 1; 235200HEMOCHROMATOSIS, TYPE 1; HFE1",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:42.022699+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAMP were set to 12915468; 15198949; 12469120\nPhenotypes for gene: HAMP were set to 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.968540+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLRX5 were set to 24003969; 30401706; 25342667; 30098397\nPhenotypes for gene: GLRX5 were set to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.915084+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to 27265538; 27816428; 20575041\nPhenotypes for gene: GBA were set to 230800 Gaucher disease, type I; 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III",
"entity_name": "GBA",
"entity_type": "gene"
}
]
}