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{
"count": 220309,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=893",
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"results": [
{
"created": "2022-04-07T09:53:19.281851+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:52:34.227597+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A26 were set to ",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:51:51.532734+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:46:06.369469+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:45:39.779724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:45:12.702988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A26 were set to ",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:44:47.323731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:28:10.290830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:26:07.216268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A3 as ready",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:26:07.204501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:25:59.496843+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A3 as ready",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:25:59.481973+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:25:55.701908+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:25:07.705828+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A3 were set to ",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:24:40.287205+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:24:09.390631+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:23:54.371765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A3 were set to ",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:23:10.712008+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:22:57.794089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:22:27.120243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:21:50.823444+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A4 as ready",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:21:50.810108+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:21:47.375188+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:21:06.700420+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T09:19:40.156137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:31:51.363144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12676",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226, 19620612, 22482962, 28495245, 18179903, 28495245; Phenotypes: Fetal akinesia deformation sequence 2 (MIM#618388), Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:13:35.955193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12676",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963, 22167183; Phenotypes: Fanconi anemia, complementation group O (MIM#613390); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:10:21.305160+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A4 were set to ",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:09:35.908348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A4 as ready",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:09:35.897943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:09:34.804176+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:08:54.043612+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:08:48.858404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:08:31.953794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A4 were set to ",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:08:14.683875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:07:42.019519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:03:59.879058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A42 as ready",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:03:59.867338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a42 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:03:48.544023+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A42 as ready",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:03:48.526071+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a42 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:03:04.301445+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A42 as ready",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:03:04.288764+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a42 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:02:59.914944+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A42 as Green List (high evidence)",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:02:59.903799+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a42 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:02:59.873427+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:02:29.887653+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A42 was added\ngene: SLC25A42 was added to Regression. Sources: Expert Review\nfounder tags were added to gene: SLC25A42.\nMode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A42 were set to 26541337; 29327420; 29923093; 34258143\nPhenotypes for gene: SLC25A42 were set to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416\nReview for gene: SLC25A42 was set to GREEN\nAdded comment: Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. \r\n\r\nSixteen individuals reported, 14 with the same founder variant, c.871A > G:p.Asn291Asp. Two additional variants reported in another two individuals. \nSources: Expert Review",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:02:18.170522+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A42 were set to ",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:01:46.682522+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:00:58.793817+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:00:21.063046+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SLC25A42.",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:00:09.562011+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T08:00:03.767445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:59:45.598402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A42 were set to ",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:59:28.171658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:59:05.360976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SLC25A42.",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:58:53.528635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A42",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:55:04.640251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:55:04.630622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:54:51.733493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:54:31.583108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A10 were set to ",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:54:10.574533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:53:52.259825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:51:17.304291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.\r\n\r\n> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.; to: Fanconi-Bickel syndrome is characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.\r\n\r\n> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:50:50.648981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A2 as ready",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:50:50.637252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:50:41.453765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:50:22.937999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A2 were set to ",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:50:01.534548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:49:40.933027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:47:29.113335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A3 as ready",
"entity_name": "SLC2A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:47:29.101640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:46:55.751123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC2A3 as Red List (low evidence)",
"entity_name": "SLC2A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:46:55.740190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:46:32.951858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC2A3",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:45:07.274107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A4 as ready",
"entity_name": "SLC2A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:45:07.261409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:44:33.532394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC2A4 as Red List (low evidence)",
"entity_name": "SLC2A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:44:33.521783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:43:30.024831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC2A4",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:40:16.502750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SORT1 as ready",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:40:16.485000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sort1 has been classified as Red List (Low Evidence).",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:40:07.138160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SORT1 were changed from to Low density lipoprotein cholesterol level QTL6] 613589",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:39:46.193694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SORT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:39:26.813790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SORT1 as Red List (low evidence)",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:39:26.802305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sort1 has been classified as Red List (Low Evidence).",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:39:07.588325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SORT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Low density lipoprotein cholesterol level QTL6] 613589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SORT1",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:35:12.480451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX10 as ready",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:35:12.451144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox10 has been classified as Green List (High Evidence).",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:35:01.132969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX10 were changed from to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:34:37.932101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX10 were set to ",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:34:16.503947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:33:57.937545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: Kallman syndrome, PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:31:35.796708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX17: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:31:25.920328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX17 as ready",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:31:25.908891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox17 has been classified as Green List (High Evidence).",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:31:15.173401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:30:54.262228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX17 were set to ",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:30:32.963339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:30:13.258635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341, 20960469; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: None",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-04-07T07:26:59.407820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX18 as ready",
"entity_name": "SOX18",
"entity_type": "gene"
}
]
}