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=1083",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1081",
"results": [
{
"created": "2021-12-15T18:29:46.617945+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rel has been classified as Amber List (Moderate Evidence).",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:29:20.437187+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: REL: Added comment: Second unrelated individual reported, with a different homozygous splice site variant.\r\n\r\nImmunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:28:30.265902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:28:08.350849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REL were set to 31103457",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:27:45.222380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REL as Amber List (moderate evidence)",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:27:45.211114+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rel has been classified as Amber List (Moderate Evidence).",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:26:39.697253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Second unrelated individual reported, homozygous splice site variant.\r\n\r\nImmunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; to: Second unrelated individual reported, with a different homozygous splice site variant.\r\n\r\nImmunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T18:26:26.225618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: REL: Added comment: Second unrelated individual reported, homozygous splice site variant.\r\n\r\nImmunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:44:04.860119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10250",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ABO: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, ABO system] MIM#616093; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "ABO",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:41:27.905568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10250",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TLR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "TLR1",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:14:52.122879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC26A5 were set to 24164807",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:14:31.572195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A5 as Amber List (moderate evidence)",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:14:31.563219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:14:13.756315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SLC26A5: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory. This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209). Classified as LIMITED by ClinGen in 2017.",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T16:13:50.700807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC26A5: Changed rating: AMBER; Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T13:59:54.805934+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC26A5 were set to 24164807; 26969326",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T13:58:55.462913+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A5 as Amber List (moderate evidence)",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T13:58:55.452423+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T13:58:28.862465+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC26A5: Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T13:57:57.837245+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.; to: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.\r\n\r\nThis gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209).\r\n\r\nClassified as LIMITED by ClinGen in 2017.",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-15T13:56:38.079736+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC26A5: Changed rating: AMBER; Changed phenotypes: Deafness, autosomal recessive 61, MIM# 613865",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:51:18.828321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTN1 as ready",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:51:18.818838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:51:11.970792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTN1 as Amber List (moderate evidence)",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:51:11.958354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:51:00.722938+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNTN1: Changed rating: AMBER",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:50:54.348301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.\r\n\r\nSevere perinatal presentation.; to: Single family reported, some functional data, further family recently reported as part of a cohort. Some pathogenic variants reported in ClinVar by diagnostic laboratories.\r\n\r\nSevere perinatal presentation.",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:50:30.982468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNTN1: Changed publications: 32779773, 19026398",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:49:49.251939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTN1 as Red List (low evidence)",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:49:49.240550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Red List (Low Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:49:37.324193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTN1: Rating: RED; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:47:01.381461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNKSR2 as ready",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:47:01.370134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr2 has been classified as Red List (Low Evidence).",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:46:54.926429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNKSR2 were changed from INTELLECTUAL DISABILITY WITH EPILEPSY to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:46:41.872382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNKSR2 were set to ",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:46:30.004465+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNKSR2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:46:19.763477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNKSR2 as Red List (low evidence)",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:46:19.753525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr2 has been classified as Red List (Low Evidence).",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:45:43.254859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNKSR2: Rating: RED; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CNKSR2",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:43:28.472122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:43:02.721123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNBP as ready",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:43:02.710399+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnbp has been classified as Red List (Low Evidence).",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:42:58.249763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, MIM#602668",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:42:43.294110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:42:25.557468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNBP as Red List (low evidence)",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:42:25.546350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnbp has been classified as Red List (Low Evidence).",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:42:13.165929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 2, MIM# 602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:39:52.858107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA7A as ready",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:39:52.853984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: AMBER for PFIC. RED for other associations.",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:39:52.823457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:39:41.853072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA7A were changed from to Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:39:20.367770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA7A were set to ",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:39:03.536783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:38:46.904049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA7A as Amber List (moderate evidence)",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T20:38:46.892260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:53:07.835602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SEMA7A: Changed rating: AMBER",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:52:58.607689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.\r\n\r\nZhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.\r\n\r\nPan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.\r\n\r\nLow evidence for association with disease.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.\r\n\r\nZhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.\r\n\r\nPan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.\r\n\r\nRated amber due to 1 patient and mouse model in PMID:34585848.",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:47:02.142666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: There is no conclusive evidence of association with monogenic disease for this gene.\r\n\r\nKoh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.\r\n\r\nZhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.\r\n\r\nPan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.\r\n\r\nZhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.\r\n\r\nPan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.\r\n\r\nLow evidence for association with disease.",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T17:46:19.252046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SEMA7A: Rating: RED; Mode of pathogenicity: None; Publications: 16372136, 31650878, 34585848; Phenotypes: Decreased bone mineral density, Kallmann syndrome, progressive familial intrahepatic cholestasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2021-12-14T15:02:17.930461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-14T15:02:08.316157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLTC as Red List (low evidence)",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-14T15:02:08.306063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Red List (Low Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-14T15:01:54.484984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.\r\n\r\nHydrocephalus in one individual.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.\r\n\r\nHydrocephalus in one individual. Microcephaly is acquired.",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-14T15:01:38.836331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.\r\n\r\nHydrocephalus in one individual.",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-14T15:01:21.330745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLTC: Changed rating: RED",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:59:43.785965+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:59:43.776688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:59:24.600584+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from PERRAULT SYNDROME to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:59:11.453593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:58:54.197028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.\r\n\r\nHowever, microcephaly reported in some.",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:58:39.667936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLPP: Changed rating: AMBER",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:58:19.449071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: As far as I can ascertain, ID has only been reported in one consanguineous family and most affected individuals have the combination of deafness/POF.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:57:28.408531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLP1 as ready",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:57:28.397312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clp1 has been classified as Green List (High Evidence).",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:57:23.662692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLP1 were set to ",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:57:11.152973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLP1 as Green List (high evidence)",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:57:11.142527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clp1 has been classified as Green List (High Evidence).",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:55:21.819564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLMP as ready",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:55:21.809953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clmp has been classified as Green List (High Evidence).",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:55:06.801846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLMP were changed from to Congenital short bowel syndrome , MIM#615237",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:54:47.428863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLMP were set to ",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:54:22.523710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:54:04.144129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:55.239377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLMP as ready",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:55.227759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clmp has been classified as Green List (High Evidence).",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:51.296840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME to Congenital short bowel syndrome , MIM#615237",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:33.070266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLMP were set to ",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:20.218361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLMP as Green List (high evidence)",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:20.207031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clmp has been classified as Green List (High Evidence).",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:52:05.063963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, malrotation is a feature.",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:51:27.252060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:50:22.951269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIT as ready",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:50:22.941273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cit has been classified as Green List (High Evidence).",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:50:16.024344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIT were set to ",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:50:02.471976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIT as Green List (high evidence)",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:50:02.460608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cit has been classified as Green List (High Evidence).",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:47:18.936010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZH2 as ready",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:47:18.926178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Green List (High Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:47:11.761548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EZH2 were changed from WEAVER SYNDROME 2 to Weaver syndrome MIM#277590",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2021-12-14T14:46:58.967948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EZH2 were set to ",
"entity_name": "EZH2",
"entity_type": "gene"
}
]
}