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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1728",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1726",
"results": [
{
"created": "2020-07-15T17:51:36.576405+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEPR as ready",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:51:36.565425+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lepr has been classified as Green List (High Evidence).",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:51:34.405136+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEPR were changed from to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:51:02.701602+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LEPR were set to ",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:50:36.713083+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LEPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:48:05.719361+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF17 as ready",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:48:05.708922+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline Green/Amber: contribution may not be monogenic.",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:48:05.681199+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf17 has been classified as Green List (High Evidence).",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:47:55.929234+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF17 were set to ",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:47:01.491878+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:46:35.844832+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643382, 31748124; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:42:33.823585+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHB as ready",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:42:33.811462+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhb has been classified as Green List (High Evidence).",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:42:30.239110+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:42:07.857304+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LHB were set to ",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:41:46.191815+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:40:56.030156+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FEZF1 as ready",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:40:56.020575+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fezf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:40:53.731101+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FEZF1 were changed from to Hypogonadotropic hypogonadism 22, with or without anosmia 616030",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:40:31.244410+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FEZF1 were set to ",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:40:08.596697+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FEZF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:39:47.960497+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FEZF1 as Amber List (moderate evidence)",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:39:47.953284+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fezf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:39:01.181120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FEZF1 as ready",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:39:01.173173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fezf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:38:54.931278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FEZF1 were changed from to Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:38:34.295894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FEZF1 were set to ",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:38:16.777797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FEZF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:38:00.460937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FEZF1 as Amber List (moderate evidence)",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:38:00.431854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fezf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:34:55.370876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESR2 as ready",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:34:55.355450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:34:48.754610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESR2 were changed from to 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:34:33.483836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESR2 were set to ",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:34:07.921934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:33:47.810404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29261182, 9861029, 30113650; Phenotypes: 46,XY disorder of sex development, Ovarian dysgenesis 8, MIM# 618187; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:32:59.659139+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUS1 were changed from to Congenital disorder of glycosylation, type 1aa, MIM#610463",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:31:21.059820+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESR2 as ready",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:31:21.051859+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:31:18.819631+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESR2 were changed from 46,XY Disorders of Sex Development to 46,XY Disorders of Sex Development; Ovarian dysgenesis 8, MIM# 618187",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:30:55.683083+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESR2 were set to 29261182; 9861029",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:30:27.541877+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESR2 as Amber List (moderate evidence)",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:30:27.532549+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:30:04.791460+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30113650; Phenotypes: Ovarian dysgenesis 8, MIM# 618187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:23:09.541023+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERAL1 as ready",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:23:09.530439+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Red List (Low Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:23:03.839940+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERAL1 as Red List (low evidence)",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:23:03.832910+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eral1 has been classified as Red List (Low Evidence).",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:22:40.864902+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERAL1: Rating: RED; Mode of pathogenicity: None; Publications: 28449065; Phenotypes: Perrault syndrome 6, MIM# 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:03:47.516792+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome (MIM#236700); Mode of inheritance: None",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:01:25.803945+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:01:25.793821+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Red List (Low Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:01:22.775508+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome (MIM#236700)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:00:53.029882+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:00:28.654647+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:00:10.524566+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKKS as Red List (low evidence)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T17:00:10.515183+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Red List (Low Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:41:57.231723+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL3 were set to ",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:41:47.889120+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC115 as ready",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:41:47.880921+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:41:41.161354+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC115 as Green List (high evidence)",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:41:41.154252+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:40:22.988374+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:40:20.775565+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GLCT as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:40:20.764458+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:40:03.279740+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST3GAL3 as Amber List (moderate evidence)",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:40:03.269627+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:37:44.263751+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GLCT as Green List (high evidence)",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:37:44.256366+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:37:42.890960+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAPSS2 as ready",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:37:42.880889+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: papss2 has been classified as Red List (Low Evidence).",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:32:40.568392+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM199 as ready",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:32:40.558005+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.84",
"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": "2020-07-15T16:32:15.635304+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM199 as Green List (high evidence)",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:32:15.627418+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.84",
"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": "2020-07-15T16:31:26.657227+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:31:14.799329+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP11 as ready",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:31:14.784202+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Red List (Low Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:31:09.420214+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.92",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:31:04.043426+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAPSS2 were set to ",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:30:28.161648+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:30:07.777527+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.80",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCDC115 was added\ngene: CCDC115 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC115 were set to 26833332\nPhenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo (MIM# \t616828)\nPenetrance for gene: CCDC115 were set to unknown\nReview for gene: CCDC115 was set to GREEN\nAdded comment: PMID: 26833332\r\n- 8 affecteds from 5 families. Abnormal N-and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts. \nSources: Literature",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:30:03.973567+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAPSS2 as Red List (low evidence)",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:30:03.964087+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: papss2 has been classified as Red List (Low Evidence).",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:29:22.357719+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:29:12.840852+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG2 as ready",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:29:12.831187+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:29:04.519263+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:28:43.035382+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUS1 as Amber List (moderate evidence)",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:28:43.028536+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:27:32.197257+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP11 were set to ",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:27:17.916162+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from to Congenital disorder of glycosylation, type Ii (MIM# 607906)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:26:56.503278+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG2 were set to ",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:26:41.500631+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP11 as Red List (low evidence)",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:26:41.491265+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Red List (Low Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:26:19.304269+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis, type IA MIM# 200600, Osteochondrodysplasia MIM# 184260; Mode of inheritance: None",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:24:14.340626+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:23:56.660332+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP1 as ready",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:23:56.650258+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-07-15T16:23:54.520451+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6AP1 as Green List (high evidence)",
"entity_name": "ATP6AP1",
"entity_type": "gene"
}
]
}