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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=999",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=997",
"results": [
{
"created": "2022-02-11T18:56:01.239144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:55:34.848266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mild ID reported only in some individuals with this progressive neurological disorder.; to: Progressive neurological disorder, childhood onset.",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:54:50.231235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:54:50.221993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:54:41.464984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNB1 as Green List (high evidence)",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:54:41.455665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:22:16.054998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAM3 as ready",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:22:16.044013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jam3 has been classified as Green List (High Evidence).",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:22:12.163692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:21:53.198052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JAM3 were set to ",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:21:40.819513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAM3 as Green List (high evidence)",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:21:40.808037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jam3 has been classified as Green List (High Evidence).",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:21:29.472541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy. Four unrelated families reported.; to: Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy. Four unrelated families reported.\r\n\r\nPerinatal presentation.",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:20:41.034658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITCH as ready",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:20:41.023008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itch has been classified as Red List (Low Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:20:32.331376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITCH were changed from AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:12:45.561312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to ",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:12:34.014523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITCH as Red List (low evidence)",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:12:34.004720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itch has been classified as Red List (Low Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:12:22.757206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals reported from Amish community, however, single variant, founder effect.; to: Multiple affected individuals reported from Amish community, however, single variant, founder effect. Short stature but age of onset uncertain.",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:12:06.625607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITCH: Changed rating: RED",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:11:05.331439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRX5 as ready",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:11:05.313309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:10:41.704198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, MIM# 611174",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:10:29.291629+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRX5 were set to ",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:09:52.336208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported with Hamamy syndrome, some functional data. ID was borderline.; to: Two families reported with Hamamy syndrome, some functional data. Multiple congenital anomalies reported: CHD, craniosynostosis, syndactyly.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:09:22.084016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Changed rating: AMBER",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:08:13.741735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT81 as ready",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:08:13.727148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift81 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:06:09.876482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT52 as ready",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:06:09.867264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift52 has been classified as Green List (High Evidence).",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:05:54.116483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT52 as Green List (high evidence)",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:05:54.105568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift52 has been classified as Green List (High Evidence).",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:04:37.162999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:04:37.153005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Green List (High Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:04:29.760371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ICK were set to 24853502; 19185282; 27466187; 27069622",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:03:49.750868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICK as Green List (high evidence)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:03:49.739931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Green List (High Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:03:37.418993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated. \nSources: Expert list; to: Ciliopathy phenotype.\r\n\r\nSources: Expert list",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T18:03:22.395932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ICK: Changed rating: GREEN; Changed phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:58:47.273958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCO1 as ready",
"entity_name": "BCO1",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:58:47.262420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bco1 has been classified as Red List (Low Evidence).",
"entity_name": "BCO1",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:58:38.702208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCO1 as Red List (low evidence)",
"entity_name": "BCO1",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:58:38.693163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bco1 has been classified as Red List (Low Evidence).",
"entity_name": "BCO1",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:58:02.891223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCH as ready",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:58:02.880212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkch has been classified as Red List (Low Evidence).",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:57:54.438377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKCH as Red List (low evidence)",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:57:54.429079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkch has been classified as Red List (Low Evidence).",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:57:17.151076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH2 as ready",
"entity_name": "ALDH2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:57:17.137234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:57:09.808073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH2 were set to ",
"entity_name": "ALDH2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:56:49.626295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH2 as Red List (low evidence)",
"entity_name": "ALDH2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:56:49.615159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:15:36.966847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNS as ready",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:15:36.955858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctns has been classified as Red List (Low Evidence).",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:15:33.205724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNS were changed from CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE to Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:15:17.832482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTNS were set to ",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:15:01.494559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:13:17.206211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A2 as ready",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:13:17.195670+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:13:13.820348+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-Van Laere syndrome 2 (MIM#614707)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:13:00.395971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC52A2 were set to 22740598; 24253200",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:10:09.371925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A4 as ready",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:10:09.356485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:10:03.702902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A4 were changed from PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES to Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278)",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:09:11.285550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A13 as ready",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:09:11.273860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a13 has been classified as Red List (Low Evidence).",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:09:06.854197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A13 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA to Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350)",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:08:52.744144+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A13 were set to ",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:07:55.461901+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:07:55.452683+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Red List (Low Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:07:52.529853+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB24 were changed from IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2 to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:07:42.332388+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB24 were set to 23486536",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:07:27.040024+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB24 as Red List (low evidence)",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:07:27.030321+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Red List (Low Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:54.351640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:54.339983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:48.758720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB24 as Green List (high evidence)",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:48.741090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:09.427162+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A26 as ready",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:09.415597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-11T17:05:04.924797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY to Combined oxidative phosphorylation deficiency 28 (MIM#616794)",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:59:38.418019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A26 were set to ",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:59:26.816344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A26 as Amber List (moderate evidence)",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:59:26.806048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:46:44.263883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10945",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: BCO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "BCO1",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:44:41.158186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10945",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRKCH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:42:18.849952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10945",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ALDH2: Rating: RED; Mode of pathogenicity: None; Publications: 31368097; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "ALDH2",
"entity_type": "gene"
},
{
"created": "2022-02-11T16:37:44.865783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: 32564281, 20301574, 9537412, 31068690; Phenotypes: Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-02-11T15:00:57.398436+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; intellectual disability; callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T15:00:39.503509+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735, Intellectual Disability, Corpus callosum abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T15:00:24.020108+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; intellectual disability; callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T15:00:05.301420+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735, Intellectual Disability, Corpus callosum abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T14:59:47.069163+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; Intellectual Disability; Callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T14:59:11.798919+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABHD16A: Changed phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735, Intellectual Disability, Corpus callosum abnormalities; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T13:01:35.041958+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; Intellectual Disability; Callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T13:00:07.895018+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735, Intellectual Disability, Corpus callosum abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T12:59:49.637903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T12:59:49.628415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T12:59:35.325962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; Intellectual Disability; Callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities",
"entity_name": "ABHD16A",
"entity_type": "gene"
}
]
}