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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2025",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2023",
"results": [
{
"created": "2019-12-30T17:05:36.385856+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Hurler syndrome, MPS 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:02:15.818712+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:02:15.806242+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Red List (Low Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:01:27.948720+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:01:05.261728+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT6B as Red List (low evidence)",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:01:05.250196+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Red List (Low Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:58:34.594000+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.67",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: None; Publications: 9490563, 7711721; Phenotypes: congenital dyserythropoietic anaemia type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:56:17.876973+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF23 as ready",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:56:17.864801+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:56:09.654426+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anemia",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:55:55.912750+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF23 were set to ",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:55:32.900909+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:55:12.820073+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF23 as Red List (low evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:55:12.809424+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:54:38.718263+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:53:53.481276+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF23 as ready",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:53:53.468499+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:53:50.903944+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anaemia",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:53:28.403640+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF23 were set to ",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:51:39.818869+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:51:12.830086+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF23 as Red List (low evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:51:12.817944+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:49:44.636704+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:33:30.355471+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:33:29.815090+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOK7 as ready",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:33:29.787117+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dok7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:33:10.285169+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:32:50.744879+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:32:27.472421+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to ",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:32:04.554247+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:31:40.761703+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOK7 as Amber List (moderate evidence)",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:31:40.749559+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dok7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:30:59.138231+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31880392, 19261599; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:15:00.194677+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:15:00.183711+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Red List (Low Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:14:55.984561+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, MIM# 603034 to Myasthenic syndrome, congenital, 5, MIM# 603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:13:59.470196+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:13:39.931782+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLQ was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:13:20.194215+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:12:52.599614+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COLQ as Red List (low evidence)",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:12:52.586889+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Red List (Low Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:12:21.517351+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:08:42.463709+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CHRNG: Typically presents with cystic hygroma/hydrops fetalis.",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:07:06.116836+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNG as ready",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:07:06.104093+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrng has been classified as Green List (High Evidence).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:06:59.414765+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNG were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:06:36.359234+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:06:07.461964+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:04:26.285415+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:04:26.274065+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Red List (Low Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:04:23.053555+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNE were changed from to Congenital myasthenic syndromes",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:04:00.549022+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:03:19.506896+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNE as Red List (low evidence)",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:03:19.494049+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Red List (Low Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:02:49.913797+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndromes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-12-30T16:02:47.515648+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.49",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Congenital Dyserythropoietic Anemia Type IV, severe nonspherocytic hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:58:01.101106+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:58:01.087494+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:57:58.239490+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:57:34.310235+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:57:05.492053+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CHRND: Typically presents with cystic hygroma/hydrops fetalis.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:55:03.202721+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:51:36.484424+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:51:36.471341+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:49:23.869148+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:48:59.923752+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:48:26.449134+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T15:11:52.860449+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Hydrops fetalis_VCGS. Sources: Other\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0586 were set to KIAA0586\nPhenotypes for gene: KIAA0586 were set to Hydrolethalus\nReview for gene: KIAA0586 was set to AMBER\nAdded comment: 20191230: \r\nPMID 26166481 reports a single case from 8 affected from 4 families \nSources: Other",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:51:30.564713+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Hydrops fetalis_VCGS. Sources: Other\nMode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: KAT6B was set to RED\nAdded comment: 20191230- Currently on the Greenwood Genetic Centre List but no Pubmed evidence that I can find \nSources: Other",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:50:28.289286+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:50:28.284034+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:50:28.256536+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:50:22.283081+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:50:02.691745+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:49:42.219841+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to 30690204",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:49:22.178494+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to ",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:48:42.542754+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:48:09.894189+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:42:06.991257+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:42:06.980174+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:35:40.895676+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG1 as Amber List (moderate evidence)",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:35:40.890342+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment on list classification: CDGs are a recognised cause of nonimmune fetal hydrops; however, single report of ALG1 and hydrops identified.",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2019-12-30T14:35:40.862350+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:47:24.944920+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP11 as Amber List (moderate evidence)",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:47:24.930809+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:46:46.752012+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP11 was added\ngene: TRIP11 was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP11 were set to 30951048; 8897040\nPhenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, MIM#\t200600\nReview for gene: TRIP11 was set to AMBER\nAdded comment: Case reports of hydrops in radiographically diagnosed babies. \nSources: Expert list",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:42:09.746438+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:42:09.735180+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:41:51.271447+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAZ were set to 29476731; 31598953",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:41:09.815020+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAZ as Green List (high evidence)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:41:09.802860+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:40:40.357238+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAZ were set to 29476731; 31598953\nPhenotypes for gene: TAZ were set to Barth syndrome, MIM#302060\nReview for gene: TAZ was set to GREEN\nAdded comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports. \nSources: Expert list",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:40:33.445248+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:40:33.432233+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Red List (Low Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:37:54.879995+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUMF1 were set to 31497481\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, MIM#\t272200\nReview for gene: SUMF1 was set to RED\nAdded comment: Single case report found of hydrops in this metabolic condition. \nSources: Expert list",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:36:20.153693+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A2 as ready",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:36:20.141310+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:35:57.231484+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A2 as Amber List (moderate evidence)",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:35:57.220409+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2019-12-30T13:35:03.950057+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A2 was added\ngene: SLC26A2 was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A2 were set to 31880411\nPhenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, MIM#\t600972\nReview for gene: SLC26A2 was set to AMBER\nAdded comment: Hydrops can be a presenting feature of this skeletal dysplasia, one case report found. \nSources: Expert list",
"entity_name": "SLC26A2",
"entity_type": "gene"
}
]
}