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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=898",
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"results": [
{
"created": "2022-04-04T10:53:44.731603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12499",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2022-04-04T10:53:32.318404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CASQ1.",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2022-04-04T10:52:46.377043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26136523, 30258016; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates MIM#616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2022-04-04T10:46:57.003773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB8",
"entity_type": "gene"
},
{
"created": "2022-04-04T10:30:02.402170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "changed review comment from: Multiple affected families and animal model.; to: Multiple affected families and animal model.\r\nNote: listed as a red gene on paed additional findings gene list. No review provided however. ",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-04T10:06:34.277146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:43:56.150316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM98 as ready",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:43:56.140536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem98 has been classified as Green List (High Evidence).",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:43:48.065975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM98 were changed from to Nanophthalmos 4 MIM#615972",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:43:23.649767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM98 were set to ",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:43:02.427642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM98 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:42:42.228571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: None; Publications: 24852644, 26392740; Phenotypes: Nanophthalmos 4 MIM#615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:40:44.567311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM70 as ready",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:40:44.554206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Green List (High Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:40:36.258016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:40:16.165680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM70 were set to ",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:39:23.619197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-04-03T19:39:02.929233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340, 21147908, 30950220; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:48:35.325449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM38B as ready",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:48:35.314206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem38b has been classified as Green List (High Evidence).",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:48:26.977332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM38B were changed from to Osteogenesis imperfecta, type XIV, MIM# 615066",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:48:08.264165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM38B were set to ",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:47:49.478933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM38B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:47:31.272819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23054245; Phenotypes: Osteogenesis imperfecta, type XIV, MIM# 615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:46:05.918260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM199 as ready",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:46:05.906199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem199 has been classified as Green List (High Evidence).",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:45:57.932896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM199 were changed from to Congenital disorder of glycosylation, type IIp MIM# 616829",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:45:38.836010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM199 were set to ",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:45:17.325871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM199 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:44:57.743129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833330, 29321044; Phenotypes: Congenital disorder of glycosylation, type IIp MIM# 616829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:43:09.086438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM173 as ready",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:43:09.075624+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem173 has been classified as Green List (High Evidence).",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:43:00.689946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:42:34.883346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM173 were set to ",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:42:16.124909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM173 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:41:58.863922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401470, 25029335; Phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:38:42.681676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMC6 as ready",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:38:42.670846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmc6 has been classified as Green List (High Evidence).",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:38:34.608461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMC6 were changed from to Epidermodysplasia verruciformis, MIM# 226400",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:38:15.595457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMC6 were set to ",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:37:55.467293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:37:36.993066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 15042430]; Phenotypes: Epidermodysplasia verruciformis, MIM# 226400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:35:39.946334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLR5 as ready",
"entity_name": "TLR5",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:35:39.935440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr5 has been classified as Red List (Low Evidence).",
"entity_name": "TLR5",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:35:31.864678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLR5 as Red List (low evidence)",
"entity_name": "TLR5",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:35:31.850040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr5 has been classified as Red List (Low Evidence).",
"entity_name": "TLR5",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:35:13.690311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TLR5",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:34:11.860041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLR3 as ready",
"entity_name": "TLR3",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:34:11.846039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr3 has been classified as Green List (High Evidence).",
"entity_name": "TLR3",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:31:48.369198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLR3 were changed from to Immunodeficiency 83, susceptibility to viral infections, MIM# 613002",
"entity_name": "TLR3",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:31:20.573744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLR3 were set to ",
"entity_name": "TLR3",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:30:54.629688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TLR3",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:30:35.678606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17872438, 21911422, 25339207, 26513235, 28368532, 31217193, 32936395; Phenotypes: Immunodeficiency 83, susceptibility to viral infections, MIM# 613002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TLR3",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:27:11.898771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLR2 as ready",
"entity_name": "TLR2",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:27:11.889002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr2 has been classified as Red List (Low Evidence).",
"entity_name": "TLR2",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:26:51.006001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLR2 as Red List (low evidence)",
"entity_name": "TLR2",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:26:50.995226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr2 has been classified as Red List (Low Evidence).",
"entity_name": "TLR2",
"entity_type": "gene"
},
{
"created": "2022-04-03T18:26:32.890536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TLR2",
"entity_type": "gene"
},
{
"created": "2022-04-02T14:08:07.642812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTCD as ready",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T14:08:07.632688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftcd has been classified as Green List (High Evidence).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T14:07:59.634261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T14:07:38.394967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTCD were set to 27604308; 12815595",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T14:07:16.814943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTCD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:52:30.373146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTCD as ready",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:52:30.361494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftcd has been classified as Green List (High Evidence).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:52:21.885764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTCD were changed from to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:51:55.969201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTCD were set to ",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:51:36.203947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:49:42.089520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF14 as ready",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:49:42.077595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf14 has been classified as Green List (High Evidence).",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:49:28.183194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27 MIM#609307",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:49:06.307868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:48:12.329189+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT4 as ready",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:48:12.313518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Green List (High Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:48:04.080953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAT4 were changed from to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:47:30.483594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAT4 were set to ",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:47:10.411763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:45:29.093678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERLIN1 as ready",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:45:29.084215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erlin1 has been classified as Green List (High Evidence).",
"entity_name": "ERLIN1",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:44:39.838226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:44:39.820047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:44:20.107526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:43:59.174014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to 20301516 20456449 9443879 8566949",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:43:36.204875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:43:17.270794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:40:01.781178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A2 as ready",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:40:01.766000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:39:52.444921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A2 were changed from to Zinc deficiency, transient neonatal , MIM#608118",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:39:30.431421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC30A2 were set to ",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:39:07.568802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC30A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2022-04-02T13:38:43.590553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC30A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17065149, 22733820, 32278324, 30450693, 28665435; Phenotypes: Zinc deficiency, transient neonatal , MIM#608118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:58:42.059903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A9 as ready",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:58:42.047982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:58:34.032588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A9 were changed from to Hypouricaemia, renal, 2, MIM# 612076",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:58:14.542910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A9 were set to ",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:57:52.455368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A9 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:57:16.020852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026395, 19926891, 21810765, 25966807, 21256783; Phenotypes: Hypouricaemia, renal, 2, MIM# 612076; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:31:03.017486+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM#\t616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM#\t616515; Deafness, autosomal dominant 21, MIM# 607017",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:30:29.404542+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2022-04-02T09:29:40.881227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017",
"entity_name": "RIPOR2",
"entity_type": "gene"
}
]
}