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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1681",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1679",
"results": [
{
"created": "2020-08-09T17:29:58.002042+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome\t, MIM#241800",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-08-09T17:29:24.370089+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:58:37.647570+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:58:37.637646+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Red List (Low Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:58:35.188215+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:58:06.983596+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:57:22.056356+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX10 as Red List (low evidence)",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:57:22.039407+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Red List (Low Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:56:12.161937+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:53:00.114089+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP4 as ready",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:53:00.094563+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:52:57.073184+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:52:39.160971+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:52:19.242055+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPHP4 as Red List (low evidence)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:52:19.231687+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:51:51.707960+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:49:39.369875+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP3 as ready",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:49:39.360950+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp3 has been classified as Green List (High Evidence).",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:49:31.441223+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:49:12.365796+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP3 were set to ",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:48:28.790855+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:48:06.098109+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931, 20007846, 32341812; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:44:24.175382+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP1 as ready",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:44:24.167266+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:44:22.082776+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile ,MIM# 256100; Senior-Loken syndrome-1 , MIM#266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:43:55.986219+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:43:34.585887+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPHP1 as Red List (low evidence)",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:43:34.576737+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:43:12.742653+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4 609583, Nephronophthisis 1, juvenile ,MIM# 256100, Senior-Loken syndrome-1 , MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:36:28.408085+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO5B as ready",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:36:28.399335+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo5b has been classified as Green List (High Evidence).",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:36:25.223280+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO5B as Green List (high evidence)",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:36:25.215024+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo5b has been classified as Green List (High Evidence).",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2020-08-09T16:36:03.098800+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO5B was added\ngene: MYO5B was added to Cholestasis. Sources: Expert list\nMode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO5B were set to 28027573; 27532546\nPhenotypes for gene: MYO5B were set to Cholestasis; Microvillus inclusion disease, MIM#251850\nReview for gene: MYO5B was set to GREEN\nAdded comment: Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age. \nSources: Expert list",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:58:29.180932+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MVK as ready",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:58:29.172471+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Red List (Low Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:58:24.253597+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from to Mevalonic aciduria, MIM# 610377",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:50:01.887175+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:49:35.828041+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MVK as Red List (low evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:49:35.819642+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Red List (Low Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:49:12.674937+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:44:38.654344+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:44:38.645244+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:44:35.881665+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:44:13.933685+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:43:46.330695+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:41:37.529407+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPI as ready",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:41:37.512996+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:38:50.873790+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:38:28.738503+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:38:04.869467+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPI as Amber List (moderate evidence)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:38:04.861359+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:37:42.551349+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:34:53.781310+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKS1 as ready",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:34:53.770690+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mks1 has been classified as Red List (Low Evidence).",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:34:46.373131+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKS1 were changed from to Meckel syndrome 1, MIM# 249000",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:34:22.302148+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:33:58.922900+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKS1 as Red List (low evidence)",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:33:58.914804+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mks1 has been classified as Red List (Low Evidence).",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:33:37.574553+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 1, MIM# 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:27:59.796364+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:27:59.787947+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Amber List (Moderate Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:27:56.200996+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:27:34.525519+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:27:02.686493+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIPA as Amber List (moderate evidence)",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:27:02.678043+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipa has been classified as Amber List (Moderate Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:26:40.082946+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:24:47.832847+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS as Amber List (moderate evidence)",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:24:47.822930+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Amber List (Moderate Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:24:21.124368+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Six unrelated families reported in the literature, reviewed in PMID: 30349989.; to: Six unrelated families reported in the literature, reviewed in PMID: 30349989. However, presenting phenotype is that of liver failure rather than cholestasis.",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:23:59.092253+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LARS: Changed rating: AMBER",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:19:03.264232+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:19:03.253528+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Red List (Low Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:19:00.738081+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, MIM# 602088",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:18:40.440341+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INVS were set to ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:18:16.624618+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:17:55.920023+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INVS as Red List (low evidence)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:17:55.911677+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Red List (Low Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:17:33.333298+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: 10421642; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:15:36.166721+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:14:27.735069+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IARS were set to 27426735",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:13:58.646770+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IARS as Amber List (moderate evidence)",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:13:58.638867+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Amber List (Moderate Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:13:32.537584+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:07:32.961806+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1B as ready",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:07:32.951693+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1b has been classified as Green List (High Evidence).",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:07:30.098582+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:07:08.747735+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF1B were set to ",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:06:51.958290+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:06:25.260667+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324003, 29727438, 30791938, 25741167; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:02:14.754839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HFE2.",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:02:04.194256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE2 as ready",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:02:04.184050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe2 has been classified as Green List (High Evidence).",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:01:58.379601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:01:39.798773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:01:23.988690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:00:29.969603+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE2 as ready",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:00:29.964553+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is HJV.",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:00:29.927893+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe2 has been classified as Green List (High Evidence).",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-09T13:00:16.260464+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HFE2.",
"entity_name": "HFE2",
"entity_type": "gene"
}
]
}