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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1473",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1471",
"results": [
{
"created": "2020-12-19T17:41:46.516138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:41:24.540496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGL were set to ",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:41:04.207739+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:40:37.745946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:37:48.146571+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGL were changed from CHIME syndrome (MIM#280000) to CHIME syndrome, MIM# 280000, MONDO:0010221",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:37:20.588237+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGL were set to 22444671; 31535386",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:36:48.111375+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PIGL.\nTag founder tag was added to gene: PIGL.",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:36:36.070060+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:35:16.604992+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGL: Changed phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:35:01.130168+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGL as ready",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:35:01.120912+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigl has been classified as Green List (High Evidence).",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:34:56.816197+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PIGL.\nTag founder tag was added to gene: PIGL.",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:34:45.748980+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:33:56.546665+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGL were set to ",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:33:28.230160+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:32:57.510513+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:23:41.391856+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALT6 as ready",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:23:41.381029+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galt6 has been classified as Green List (High Evidence).",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:23:38.718108+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALT6 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:23:11.596230+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALT6 were set to ",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:22:38.854391+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GALT6: Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:22:13.967553+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:21:40.972162+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 23664118; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:17:47.254276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALT6 as ready",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:17:47.229900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galt6 has been classified as Green List (High Evidence).",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:17:38.007153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:17:18.484051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALT6 were set to ",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:16:58.630133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:16:36.943109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:15:15.717568+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALT6 as ready",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:15:15.705475+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galt6 has been classified as Green List (High Evidence).",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:15:12.851671+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:14:43.949358+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALT6 were set to ",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:14:16.041435+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:13:46.144719+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.\r\n\r\nVariants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome\tMIM#609465, all of which have overlapping features.; to: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.\r\n\r\nVariants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome\tMIM#609465, all of which have overlapping features. Multiple families reported.",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:13:32.723078+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:05:32.344028+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:05:32.335887+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:05:28.595124+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:05:01.161256+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:04:37.150560+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:04:06.658524+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:03:03.110139+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:03:03.101392+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:03:00.614967+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:02:34.344933+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:02:05.185470+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T17:01:34.096090+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:59:54.475878+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:59:54.467321+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:59:50.640084+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:57:19.492223+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:56:46.951617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:56:12.289554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:54:59.682434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:54:59.667754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:54:52.449802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:54:33.764898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:54:14.731929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:53:56.414249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:51:17.759037+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GALNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:51:08.052225+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:51:08.040319+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:51:05.202297+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:49:51.568845+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:49:22.674144+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T16:48:51.026193+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:18:38.476831+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:18:38.466558+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:18:29.770095+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPDU1 as Green List (high evidence)",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:18:29.762721+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:18:01.656218+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPDU1 was added\ngene: MPDU1 was added to Muscular dystrophy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919\nPhenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211\nReview for gene: MPDU1 was set to GREEN\nAdded comment: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK. \nSources: Expert Review",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:16:05.495788+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:16:05.485672+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:16:01.956333+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:15:49.278493+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDU1 were set to ",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:15:36.013345+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPDU1 as Green List (high evidence)",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:15:35.995561+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:15:12.066498+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:15:03.170118+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:15:03.159743+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:14:28.249089+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:14:28.237783+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:14:14.766209+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:13:29.265389+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDU1 were set to ",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:12:57.966947+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:12:23.403302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:12:02.386312+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:12:02.374494+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:11:53.497609+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:11:26.150213+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDU1 were set to ",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:06:50.337758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:06:17.210655+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:05:54.845463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPDU1 as ready",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:05:54.833305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpdu1 has been classified as Green List (High Evidence).",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:05:31.720319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:05:12.212795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDU1 were set to ",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:04:52.695900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:04:45.355178+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-12-19T14:04:34.370198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDU1",
"entity_type": "gene"
}
]
}