HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1885",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1883",
"results": [
{
"created": "2020-04-04T15:04:29.130797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOP2B were set to 31198993",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:04:04.928366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.\r\nAssociation with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.\r\nSources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.\r\nAssociation with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.\r\nIntellectual disability: two unrelated individuals reported with same de novo variant, c.187C > T, p.(His63Tyr) and also supportive mouse model data.\r\nSources: Literature",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:02:35.045113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Changed publications: 28343847, 31198993, 31409799, 12773624; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies, Intellectual disability",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:00:30.138371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Changed publications: 28343847",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:59:23.385571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Green List (high evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:59:23.374276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:59:03.908049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data. \nSources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.\r\nAssociation with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.\r\nSources: Literature",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:58:36.519218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOP2B: Changed rating: GREEN; Changed publications: 31198993, 31409799, 31953910; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:58:24.171696+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP2B as ready",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:58:24.162763+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:57:38.712227+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Green List (high evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:57:38.703423+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Green List (High Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:56:55.528214+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOP2B was added\ngene: TOP2B was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOP2B were set to 31409799\nPhenotypes for gene: TOP2B were set to Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies\nReview for gene: TOP2B was set to GREEN\nAdded comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model. \nSources: Expert list",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:49:32.773676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A7 as ready",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:49:32.760507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:49:23.114414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A7 as Green List (high evidence)",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:49:23.101653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:49:04.406341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A7 was added\ngene: SLC39A7 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A7 were set to 30718914\nPhenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia\nReview for gene: SLC39A7 was set to GREEN\nAdded comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype. \nSources: Expert list",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:48:46.861425+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A7 as ready",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:48:46.852296+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:48:08.588563+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A7 as Green List (high evidence)",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:48:08.574736+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:47:35.976602+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A7 was added\ngene: SLC39A7 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A7 were set to 30718914\nPhenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia\nReview for gene: SLC39A7 was set to GREEN\nAdded comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype. \nSources: Expert list",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:41:42.846262+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKB were changed from Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592 to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:41:37.587746+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKB as ready",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:41:37.578417+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkb has been classified as Green List (High Evidence).",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:41:20.805277+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:40:34.722100+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKBKB were set to ",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:40:11.243138+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IKBKB was changed from to Other",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:39:45.553270+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:39:13.163081+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470, 25216719, 24369075; Phenotypes: Immunodeficiency 15A, autosomal dominant, MIM# 618204, Immunodeficiency 15B, autosomal recessive, MIM# 615592; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:35:57.274001+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD11 as ready",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:35:57.251638+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card11 has been classified as Green List (High Evidence).",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:35:52.865143+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:35:29.634828+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARD11 were set to ",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:35:04.643905+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARD11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:34:31.976229+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:29:34.129331+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency, MIM# 245590",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:29:00.587397+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT5B as ready",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:29:00.573649+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat5b has been classified as Green List (High Evidence).",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:28:36.884286+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT5B were set to ",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:28:07.586515+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STAT5B was changed from to Other",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:27:39.811344+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:27:08.965429+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:22:38.389886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFE2L2 as ready",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:22:38.381396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:22:23.135768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFE2L2 as Green List (high evidence)",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:22:23.122630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:22:00.242027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFE2L2 was added\ngene: NFE2L2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NFE2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFE2L2 were set to 29018201\nPhenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#\t617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions\nReview for gene: NFE2L2 was set to GREEN\nAdded comment: Four unrelated individuals reported. \nSources: Expert list",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:20:07.369811+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFE2L2 as Green List (high evidence)",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:20:07.360450+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:19:34.890296+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFE2L2 was added\ngene: NFE2L2 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L2 were set to 29018201\nPhenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#\t617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions\nReview for gene: NFE2L2 was set to GREEN\nAdded comment: Four unrelated individuals reported. \nSources: Expert list",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:16:16.278196+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT4 as ready",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:16:16.269343+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Green List (High Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:15:53.519755+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAT4 as Green List (high evidence)",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:15:53.506694+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Green List (High Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:15:24.216872+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAT4 was added\ngene: FAT4 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, MIM#\t616006; Low/variable T and B cells; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features\nReview for gene: FAT4 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:12:22.773318+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11B as ready",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:12:22.764478+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:12:09.395792+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCL11B as Green List (high evidence)",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:12:09.382711+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11b has been classified as Green List (High Evidence).",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:11:40.028068+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL11B was added\ngene: BCL11B was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCL11B were set to 29985992; 27959755\nPhenotypes for gene: BCL11B were set to Immunodeficiency 49, MIM#\t617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM#\t618092\nReview for gene: BCL11B was set to GREEN\nAdded comment: Over ten individuals reported, variable features in addition to T-cell abnormalities. \nSources: Expert list",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:03:50.421426+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKIV2L as ready",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:03:50.412896+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:03:45.828217+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SKIV2L as Green List (high evidence)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:03:45.819327+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-04T14:03:15.545151+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKIV2L was added\ngene: SKIV2L was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKIV2L were set to 22444670\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM#\t614602; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair; Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities\nReview for gene: SKIV2L was set to GREEN\nAdded comment: At least six unrelated individuals reported. \nSources: Expert list",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:59:32.940133+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC37 as ready",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:59:32.926209+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Green List (High Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:59:27.935206+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC37 as Green List (high evidence)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:59:27.925361+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Green List (High Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:58:58.339193+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC37 were set to 21120949; 20176027\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, MIM#\t222470; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair:Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities\nReview for gene: TTC37 was set to GREEN\nAdded comment: Over 20 families reported. \nSources: Expert list",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:50:43.008176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBIN as ready",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:50:42.999814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbin has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:50:32.698381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBIN as Amber List (moderate evidence)",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:50:32.685264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbin has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:50:12.774533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERBIN was added\ngene: ERBIN was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERBIN were set to 28126831\nPhenotypes for gene: ERBIN were set to Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some\nReview for gene: ERBIN was set to AMBER\nAdded comment: Single family and functional data. \nSources: Expert list",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:48:49.107884+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBIN as ready",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:48:49.099245+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbin has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:48:44.820435+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBIN as Amber List (moderate evidence)",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:48:44.807427+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbin has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:48:14.855065+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERBIN was added\ngene: ERBIN was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERBIN were set to 28126831\nPhenotypes for gene: ERBIN were set to Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some\nReview for gene: ERBIN was set to AMBER\nAdded comment: Single family and functional data. \nSources: Expert list",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:36:37.608254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF341 as ready",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:36:37.595174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf341 has been classified as Green List (High Evidence).",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:36:28.542796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF341 as Green List (high evidence)",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:36:28.533737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf341 has been classified as Green List (High Evidence).",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:36:11.582061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF341 was added\ngene: ZNF341 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF341 were set to 29907691; 29907690\nPhenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth\nReview for gene: ZNF341 was set to GREEN\nAdded comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported). \nSources: Expert list",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:34:39.725224+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF341 as ready",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:34:39.716029+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf341 has been classified as Green List (High Evidence).",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:34:35.160755+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF341 as Green List (high evidence)",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:34:35.147585+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf341 has been classified as Green List (High Evidence).",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T13:34:05.066347+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF341 was added\ngene: ZNF341 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF341 were set to 29907691; 29907690\nPhenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#\t618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth\nReview for gene: ZNF341 was set to GREEN\nAdded comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported). \nSources: Expert list",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:43.659090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL6ST as ready",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:43.649743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Green List (High Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:33.623962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6ST as Green List (high evidence)",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:33.610360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Green List (High Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:16.569954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL6ST was added\ngene: IL6ST was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175\nPhenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.\nReview for gene: IL6ST was set to GREEN\nAdded comment: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association. \nSources: Expert list",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:00.804557+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL6ST as ready",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:59:00.790538+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Green List (High Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:58:11.730745+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6ST as Green List (high evidence)",
"entity_name": "IL6ST",
"entity_type": "gene"
}
]
}