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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=879",
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"results": [
{
"created": "2022-04-19T16:48:24.973482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPARA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hyperapobetalipoproteinemia, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:45:33.920117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPM1K as ready",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:45:33.906415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1k has been classified as Red List (Low Evidence).",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:45:23.471596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:45:02.507533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPM1K were set to ",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:44:41.311985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:44:21.572213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPM1K as Red List (low evidence)",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:44:21.562070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1k has been classified as Red List (Low Evidence).",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:44:02.406766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:41:21.857121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPOX as ready",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:41:21.844648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:41:09.137185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPOX were changed from to Porphyria variegata , MIM#176200",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:40:47.428119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPOX were set to ",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:40:25.659477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:40:05.724605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12357337, 32247286, 23324528, 27982422; Phenotypes: Porphyria variegata , MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:38:31.870892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R15B as ready",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:38:31.860559+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:38:26.808315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:36:38.474632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R15B as ready",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T16:36:38.464033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T14:17:08.075226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SH2D1A: Rating: ; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-04-19T13:53:34.591326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 8923014, 7481775, 8968757, 27708273; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:45:39.777022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFHR5 as ready",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:45:39.755761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Green List (High Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:45:30.137338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13061",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:45:19.641645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13060",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to ",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:45:11.638273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13060",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-19T12:44:55.951903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13059",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM#614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:31:41.363977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13059",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFH as ready",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:31:41.353612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13059",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:30:35.624282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13059",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFH were changed from to Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:30:15.101156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13059",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CFH were set to ",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:30:14.188639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13059",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:29:37.902015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13058",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826, 20301541, 9312129, 10803850, 29888403, 30905644; Phenotypes: Basal laminar drusen MIM#126700, Complement factor H deficiency MIM#609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:25:42.558034+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to ",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:25:19.576536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:24:59.192566+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R15B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:24:57.961149+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to ",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:24:32.334706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:24:16.740620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:23:37.267182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Amber List (moderate evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:23:37.257973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:23:23.494834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Amber List (moderate evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:23:23.483785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:22:43.539573+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:21:56.081594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:19:44.159338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R3A as ready",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:19:44.149372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3a has been classified as Red List (Low Evidence).",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:19:33.784174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R3A were changed from to Insulin resistance, severe, digenic 125853",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:19:11.836383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1R3A were set to ",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:18:50.634159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:18:30.846331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R3A as Red List (low evidence)",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:18:30.830008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3a has been classified as Red List (Low Evidence).",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:18:02.327097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: None; Publications: 29948331, 12118251, 18232732; Phenotypes: Insulin resistance, severe, digenic 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R3A",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:14:40.046442+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRCD as ready",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:14:40.033261+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prcd has been classified as Green List (High Evidence).",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:14:37.271004+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRCD were changed from Retinitis pigmentosa 36, 610599 to Retinitis pigmentosa 36, MIM# 610599",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:14:25.838053+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRCD were set to ",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:14:11.514798+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:13:13.088585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRCD as ready",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:13:13.076200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prcd has been classified as Green List (High Evidence).",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:13:01.947133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRCD were changed from to Retinitis pigmentosa 36, MIM# 610599",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:12:38.090074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRCD were set to ",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:09:51.213134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:09:21.843489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:05:35.680098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM16 as ready",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:05:35.667068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:05:26.123442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:05:05.269903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM16 were set to ",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:04:34.162542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDM16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:04:10.374360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM16 as Amber List (moderate evidence)",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:04:10.357368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:03:49.772176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: None; Publications: 23768516, 29367541, 34915728, 31965688, 29367541; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:51:37.482246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13043",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFD as ready",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:51:37.472675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13043",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfd has been classified as Green List (High Evidence).",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:51:31.492703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13043",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFD were changed from to Complement factor D deficiency MIM#613912",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:51:24.141323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13042",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CFD were set to ",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:51:16.452060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13041",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:50:53.406521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13040",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency MIM#613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:43:19.306532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13040",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CEP78 as ready",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:43:19.294888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13040",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cep78 has been classified as Green List (High Evidence).",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:43:10.883415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13040",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CEP78 were changed from to Cone-rod dystrophy and hearing loss MIM#617236",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:43:06.064801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13039",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CEP78 were set to ",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:43:00.847974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13039",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP78 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:42:44.286347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13038",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 28005958, 27588451, 27588452, 27627988; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:40:04.758671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13038",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CEBPA as ready",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:40:04.739714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13038",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cebpa has been classified as Red List (Low Evidence).",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:39:57.179078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13038",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, somatic MIM#601626",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:39:45.874084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13038",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CEBPA as Red List (low evidence)",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:39:45.864240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13038",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cebpa has been classified as Red List (Low Evidence).",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:39:26.723513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13037",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CEBPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, somatic MIM#601626; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:35:40.897180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13037",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CEACAM16 as ready",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:35:40.884554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13037",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ceacam16 has been classified as Green List (High Evidence).",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:27:39.359368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13037",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CEACAM16 were set to ",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:27:34.021540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13037",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:27:28.261931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13037",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:27:08.722993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13036",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:24:22.185524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13036",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CDKN2A as ready",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:24:22.173586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13036",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cdkn2a has been classified as Red List (Low Evidence).",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-19T10:24:10.367559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13036",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN2A were changed from to {Melanoma and neural system tumor syndrome} MIM#155755; {Melanoma, cutaneous malignant, 2} MIM#155601; {Melanoma-pancreatic cancer syndrome} MIM#606719",
"entity_name": "CDKN2A",
"entity_type": "gene"
}
]
}