HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1467",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1465",
"results": [
{
"created": "2020-12-22T11:00:52.252730+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem165 has been classified as Green List (High Evidence).",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:00:49.231222+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T11:00:03.434123+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM165 were set to ",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:59:33.112968+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:59:03.874859+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:51:48.825916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, MIM 269250 to Schneckenbecken dysplasia, MIM 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:51:43.317871+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:51:09.892855+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC35D1: Changed phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:50:41.868890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35D1 were set to 31423530; 19508970",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:50:17.690345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:48:57.458395+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35D1 as ready",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:48:57.445318+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35d1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:48:54.173457+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:48:26.162890+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35D1 were set to ",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:47:58.276498+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-22T10:47:15.592674+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:42:11.968890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35C1 as ready",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:42:11.959758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35c1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:41:44.977481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:41:24.483134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35C1 were set to ",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:41:05.058008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:40:45.879175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:39:36.988645+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35C1 as ready",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:39:36.972453+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35c1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:39:33.677189+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:39:09.318074+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35C1 were set to ",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:38:46.778588+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:38:16.703416+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:34:09.570101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II , MIM#224100 to Dyserythropoietic anemia, congenital, type II , MIM#224100; Cowden syndrome 7, MIM#\t616858",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:33:03.117795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC23B were set to 19561605; 19621418",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:32:43.991767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC23B: Changed phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100, Cowden syndrome 7, MIM# 616858",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:32:20.119980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC23B: Changed publications: 19561605, 19621418, 26522472",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:31:57.620476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 20 families reported.; to: Bi-allelic variants and anaemia: Over 20 families reported.\r\n\r\nMono-allelic variants: three families reported with heterozygous missense variants, however note these are present in gnomad. In the case of one of the variants, >2,000 hets. LIMITED evidence for disease association.",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:28:23.478662+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC23B as ready",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:28:23.466800+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Green List (High Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:28:18.095275+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:27:50.437873+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC23B were set to ",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:27:22.145324+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:26:50.700863+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Mode of inheritance: None",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:14:56.234618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:14:56.223964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:14:48.416751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:14:27.371458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNE were set to ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:14:07.028965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:13:48.429617+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:13:48.417798+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:13:37.253350+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:13:02.631864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:13:00.344862+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNE were set to ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:12:40.829729+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T19:11:45.803614+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:34:19.746302+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNT3 as ready",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:34:19.733967+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galnt3 has been classified as Green List (High Evidence).",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:34:16.813643+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:33:47.000787+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALNT3 were set to ",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:33:16.319262+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:32:46.818904+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:29:03.817357+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:29:03.806652+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:28:43.711239+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:28:13.573550+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:27:42.799036+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:26:44.798093+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:26:44.789898+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Green List (High Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:26:41.665668+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:26:05.617023+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:25:36.276302+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:14:24.323222+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXT2 as ready",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:14:24.314138+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ext2 has been classified as Green List (High Evidence).",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:14:22.012964+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:13:51.165140+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXT2 were set to ",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:13:21.019298+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:12:51.450193+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30288735, 30075207, 26246518; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:10:49.182367+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXT2 were set to ",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:10:10.681413+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXT2: Changed publications: 30288735, 30075207, 26246518",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:08:50.400642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXT2 as ready",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:08:50.392333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ext2 has been classified as Green List (High Evidence).",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:08:41.961653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:08:21.171735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:06:26.788422+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXT1 as ready",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:06:26.775754+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ext1 has been classified as Green List (High Evidence).",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:06:23.115272+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXT1 were changed from to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:06:01.239332+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXT1 were set to ",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:05:32.559705+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-12-21T18:05:02.574756+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 9521425; Phenotypes: Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:58:53.962047+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBL1X as ready",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:58:53.952019+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Green List (High Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:58:39.503928+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBL1X as Green List (high evidence)",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:58:39.486908+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Green List (High Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:58:25.958673+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:56:49.581528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBL1X as ready",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:56:49.570889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Green List (High Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:56:38.928020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBL1X as Green List (high evidence)",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:56:38.917150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Green List (High Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:54:23.733883+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHSY1 as ready",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:54:23.725468+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Green List (High Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:54:17.742351+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHSY1 as Green List (high evidence)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:54:17.729390+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Green List (High Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:53:46.308327+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHSY1 was added\ngene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHSY1 were set to 21129728; 21129727; 24269551\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)\nReview for gene: CHSY1 was set to GREEN\nAdded comment: Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported. \nSources: Expert Review",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:52:16.204168+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "CHSY1",
"entity_type": "gene"
}
]
}