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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=850",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=848",
"results": [
{
"created": "2022-05-09T11:57:03.854187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13954",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DMD as ready",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:57:03.843619+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13954",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dmd has been classified as Green List (High Evidence).",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:56:21.416686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13954",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DMD were changed from to Becker muscular dystrophy MIM@300376 XLR; Cardiomyopathy, dilated, 3B MIM#302045 XL; Duchenne muscular dystrophy MIM#310200",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:56:16.549833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13953",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DMD were set to ",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:56:12.349389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13953",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:55:55.406172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM@300376 XLR, Cardiomyopathy, dilated, 3B MIM#302045 XL, Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:50:06.584586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DLX3 as ready",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:50:06.575101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dlx3 has been classified as Green List (High Evidence).",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:49:48.412320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DLX3 were changed from to Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:49:45.568904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DLX3 were set to ",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:49:22.196034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13952",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:48:58.993220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 15666299, 18203197; Phenotypes: Amelogenesis imperfecta, type IV, MIM# 104510, Trichodontoosseous syndrome, MIM# 190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:46:22.187699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DLAT as ready",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:46:22.175530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dlat has been classified as Green List (High Evidence).",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:45:21.861508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DLAT were set to ",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:45:11.142994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13950",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency MIM#245348",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:45:01.844161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13950",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:44:45.673925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Pyruvate dehydrogenase E2 deficiency MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:29:08.513371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: SLC22A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 14655203, 34412930, 34756726, 34829836, 26821810; Phenotypes: Hypouricemia, renal, MIM# 220150, MONDO:0020728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:03:08.691531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DISC1 as ready",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:03:08.674953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: disc1 has been classified as Red List (Low Evidence).",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:02:25.728621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DISC1 were changed from to {Schizophrenia 9, susceptibility to} MIM#604906",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:02:13.674972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DISC1 were set to ",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:01:55.987266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: DISC1 as Red List (low evidence)",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:01:55.974576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13949",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: disc1 has been classified as Red List (Low Evidence).",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T11:01:31.479618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13948",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 18945897; Phenotypes: {Schizophrenia 9, susceptibility to} MIM#604906; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DISC1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:41:44.426448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13948",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LPL as ready",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:41:44.413959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13948",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lpl has been classified as Green List (High Evidence).",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:41:37.653877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13948",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250; Lipoprotein lipase deficiency, MIM# 238600",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:41:09.483506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13947",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LPL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:40:42.452040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13946",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined hyperlipidemia, familial, MIM# 144250, Lipoprotein lipase deficiency, MIM# 238600; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:35:45.262725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13946",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DHTKD1 as ready",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:35:45.257611+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13946",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: green for AR, amber for AD",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:35:45.191931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13946",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dhtkd1 has been classified as Green List (High Evidence).",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:35:28.406713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13946",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: DHTKD1 were set to ",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:35:12.655025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13945",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DHTKD1 were changed from to Alpha-aminoadipic and alpha-ketoadipic aciduria\tMIM#204750, AR; Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:34:41.107049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13944",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHTKD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:32:35.410054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13943",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LPAR6 as ready",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:32:35.396741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13943",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lpar6 has been classified as Green List (High Evidence).",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:32:29.300105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13943",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LPAR6 were changed from to Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:32:06.957832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13942",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LPAR6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:31:38.694353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13941",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LPAR6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:31:27.966020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13941",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DHH as ready",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:31:27.950517+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13941",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:31:12.732642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13941",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM#\t607080 to 46XY gonadal dysgenesis with minifascicular neuropathy\tMIM#607080; 46XY sex reversal 7\tMIM#233420",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:27:34.136643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13940",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LOXL1 as ready",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:27:34.124879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13940",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: loxl1 has been classified as Red List (Low Evidence).",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:27:23.656768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13940",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LOXL1 was changed from Unknown to Other",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:27:04.919479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13939",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LOXL1 were changed from to Exfoliation syndrome, susceptibility to, MIM#177650",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:26:41.716482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13938",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LOXL1 as Red List (low evidence)",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:26:41.703121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13938",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: loxl1 has been classified as Red List (Low Evidence).",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:26:15.189143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13937",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LOXL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exfoliation syndrome, susceptibility to, MIM#177650; Mode of inheritance: Other",
"entity_name": "LOXL1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:15:38.280246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13937",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LMF1 as ready",
"entity_name": "LMF1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:15:38.270958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13937",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lmf1 has been classified as Green List (High Evidence).",
"entity_name": "LMF1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:15:29.686625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13937",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LMF1 were changed from to Lipase deficiency, combined, MIM# 246650",
"entity_name": "LMF1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:15:06.835518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13936",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMF1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:14:42.892328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13935",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipase deficiency, combined, MIM# 246650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMF1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:09:15.881246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13935",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LMBRD1 as ready",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:09:15.868531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13935",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:08:33.648506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13935",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:08:02.989262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13934",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LMBRD1 were set to ",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:07:24.538892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13933",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:05:16.824892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13932",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LMBR1 as ready",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:05:16.810312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13932",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lmbr1 has been classified as Green List (High Evidence).",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:05:03.271144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13932",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LMBR1 were changed from to Laurin-Sandrow syndrome, MIM# 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I, MIM# 174500; Syndactyly, type IV, MIM# 186200; Acheiropody, MIM# 200500; Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500; Hypoplastic or aplastic tibia with polydactyly, MIM# 188740",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:04:35.919999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13931",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMBR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2022-05-09T10:04:00.457960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13930",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Laurin-Sandrow syndrome, MIM# 135750, Polydactyly, preaxial type II 174500, Triphalangeal thumb, type I, MIM# 174500, Syndactyly, type IV, MIM# 186200, Acheiropody, MIM# 200500, Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500, Hypoplastic or aplastic tibia with polydactyly, MIM# 188740; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2022-05-09T09:40:53.795991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13930",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SLC17A3: Rating: RED; Mode of pathogenicity: None; Publications: 34290818, 20810651; Phenotypes: [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-09T09:25:03.170221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13930",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 10072434, 10051646, 10425211, 10480371, 10679939, 9837751, 23379544, 31399326; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:42:32.029298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP27B1 as ready",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:42:32.019705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp27b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:42:21.560879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27B1 were changed from to Vitamin D-dependent rickets, type I MIM#264700",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:41:26.307369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13929",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP27B1 were set to ",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:41:21.948180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13929",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP27B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:41:04.189789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13928",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9486994, 9415400, 12050193, 27473561, 34492747, 33823104; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:35:53.416018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13928",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP51A1 as ready",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:35:53.404604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13928",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp51a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:35:47.682684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13928",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP51A1 were changed from to congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO#0033853",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:33:43.701615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13927",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP51A1 were set to ",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:30:42.884580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13926",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP4V2 as ready",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:30:42.872840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13926",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp4v2 has been classified as Green List (High Evidence).",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:30:34.927200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13926",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP4V2 were changed from to Bietti crystalline corneoretinal dystrophy, MIM# 210370",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:30:30.828273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13925",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP4V2 were set to ",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:30:11.472540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13925",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP4V2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:29:51.650932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13924",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042513, 22497028; Phenotypes: Bietti crystalline corneoretinal dystrophy, MIM# 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:24:52.287976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13924",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP2R1 as ready",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:24:52.276721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13924",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2r1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:24:30.203608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13924",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP2R1 were set to 15128933; 28548312",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:23:52.445633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2R1 were changed from to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:23:48.008767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP2R1 were set to ",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:23:32.073386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP2R1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:23:03.041513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13922",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP2R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15128933, 28548312; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:20:48.172598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13922",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CYP2D6 as ready",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:20:48.160627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13922",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2d6 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:20:02.821792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13922",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2D6 were changed from to {Codeine sensitivity} MIM#608902; {Debrisoquine sensitivity} MIM#608902",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:19:56.807600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13921",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CYP2D6 were set to ",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:19:51.921508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13921",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CYP2D6 as Red List (low evidence)",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:19:51.910424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13921",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2d6 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:19:34.598754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13920",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CYP2D6: Rating: RED; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: {Codeine sensitivity} MIM#608902, {Debrisoquine sensitivity} MIM#608902; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:14:51.750101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13920",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CYP2C19 as Red List (low evidence)",
"entity_name": "CYP2C19",
"entity_type": "gene"
}
]
}