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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=468",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=466",
"results": [
{
"created": "2024-04-19T15:34:48.659256+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:34:38.023640+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PIK3R1: Added comment: Many reports now of somatic variants in individuals with capillary malformation with dilated veins. Loss of function is the expected mechanism of malformation formation.; Changed rating: GREEN; Changed publications: 29174369, 34040190, 37641480, 38431221",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:03:47.880435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PMP2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:03:30.732354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMP2 as Amber List (moderate evidence)",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:03:30.718438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2024-04-19T15:01:54.221479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMP2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 26257172, 27009151, 30249361, 31412900, 26828946, 32277537; Phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:52:18.585398+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:52:06.857667+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ELANE: ClinGen: there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.\r\n\r\nEntire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).\r\n\r\nMaturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:51:23.239248+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:51:07.092668+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELANE as ready",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:51:07.083436+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elane has been classified as Green List (High Evidence).",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:51:03.879736+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:50:54.197769+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:50:44.141358+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:50:35.850657+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:50:17.268393+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:49:46.794789+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:49:33.336851+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:48:59.046278+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:48:30.767190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to 19036076",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:48:15.133876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:47:52.399838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:47:28.997001+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:46:53.520331+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:46:51.173183+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:45:34.606461+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:45:34.580169+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:45:31.591445+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from to adrenoleukodystrophy (MONDO:0018544)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:45:01.305006+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:44:29.500307+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:43:56.872722+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15811009, 8651290, 7825602, 21700483; Phenotypes: adrenoleukodystrophy (MONDO:0018544); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:43:11.741790+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:43:11.731406+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:43:05.793802+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to 15811009; 8651290; 7825602; 21700483",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:42:30.957121+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to 15811009; 8651290; 7825602, 21700483",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:41:40.447598+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:41:02.473879+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from to adrenoleukodystrophy (MONDO:0018544)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:39:46.284398+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:38:54.035088+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:37:14.514172+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNOT1 as Amber List (moderate evidence)",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:37:14.504829+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:36:54.931515+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNOT1: Added comment: LIMITED by ClinGen for holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787\r\n\r\nClinGen curation: CNOT1 was originally reported in cases of holoprosencephaly and/or pancreatic agenesis/insufficiency in 2019 (PMID: 31006513, 31006510). One of the papers included 3 individuals with heterozygous p.Arg535Cys (PMID: 31006513), confirmed to be de novo in 2 individuals. One of these individuals was not scored due to a lack of documentation of holoprosencephaly. The other paper included 2 individuals with de novo p.Arg535Cys, both of whom with holoprosencephaly. A knock-in mouse model of this variant showed neurological and pancreatic abnormalities at E14.5, and this evidence was used to augment the genetic evidence. A mouse brain expression study (PMID: 31006510) was scored as functional evidence. In total, there is Limited evidence to support the gene-disease relationship between CNOT1 and holoprosencephaly with or without pancreatic agenesis. Of note, this gene has also been implicated in Vissers-Bodmer syndrome, which is characterized by global developmental delay and behavioral abnormalities apparent from infancy. As the condition is clinically distinct from holoprosencephaly and/or pancreatic agenesis/insufficiency, lacks specific structural brain anomalies, and likely has different molecular mechanisms, this will be/have been assessed separately.; Changed rating: AMBER; Changed phenotypes: Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:36:39.202283+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:36:15.648652+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT1 were changed from HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:34:59.407158+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNOT1 as Amber List (moderate evidence)",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:34:59.393892+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:34:29.421524+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNOT1: Changed rating: AMBER",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:34:19.134466+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CNOT1: Added comment: LIMITED by ClinGen for holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787\r\n\r\nClinGen curation:\r\nCNOT1 was originally reported in cases of holoprosencephaly and/or pancreatic agenesis/insufficiency in 2019 (PMID: 31006513, 31006510). One of the papers included 3 individuals with heterozygous p.Arg535Cys (PMID: 31006513), confirmed to be de novo in 2 individuals. One of these individuals was not scored due to a lack of documentation of holoprosencephaly. The other paper included 2 individuals with de novo p.Arg535Cys, both of whom with holoprosencephaly. A knock-in mouse model of this variant showed neurological and pancreatic abnormalities at E14.5, and this evidence was used to augment the genetic evidence. A mouse brain expression study (PMID: 31006510) was scored as functional evidence. In total, there is Limited evidence to support the gene-disease relationship between CNOT1 and holoprosencephaly with or without pancreatic agenesis. Of note, this gene has also been implicated in Vissers-Bodmer syndrome, which is characterized by global developmental delay and behavioral abnormalities apparent from infancy. As the condition is clinically distinct from holoprosencephaly and/or pancreatic agenesis/insufficiency, lacks specific structural brain anomalies, and likely has different molecular mechanisms, this will be/have been assessed separately.; Changed phenotypes: Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:31:57.638078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CNOT1: DEFINITIVE by ClinGen for Neurodevelopmental disorder.",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:28:24.006155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHARPIN as ready",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:28:23.987712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sharpin has been classified as Green List (High Evidence).",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:28:15.599463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHARPIN as Green List (high evidence)",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:28:15.584307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sharpin has been classified as Green List (High Evidence).",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:27:57.351682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHARPIN was added\ngene: SHARPIN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SHARPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHARPIN were set to 38609546\nPhenotypes for gene: SHARPIN were set to Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related\nReview for gene: SHARPIN was set to GREEN\nAdded comment: Two unrelated patients with homozygous frameshift variants presenting with: P1 - recurrent fever, parotitis, joint inflammation, colitis and chronic otitis media necessitating tympanoplasty P2 - recurrent fever episodes with lymphadenopathy and vomiting every 2–3 weeks. Extensive functional data and mouse model. \nSources: Literature",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:26:17.547154+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHARPIN as ready",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:26:17.528791+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sharpin has been classified as Green List (High Evidence).",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:26:12.800809+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHARPIN were changed from recurrent fever to Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:25:38.383878+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHARPIN as Green List (high evidence)",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:25:38.375412+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sharpin has been classified as Green List (High Evidence).",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:25:06.866290+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHARPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:20:34.252387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489; distal hereditary motor neuropathy, MONDO:0018894",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:20:12.831961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to 22232211; 27165006",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:19:50.841440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:18:19.914140+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCRA as ready",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:18:19.901530+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcra has been classified as Green List (High Evidence).",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:18:15.390430+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCRA as Green List (high evidence)",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:18:15.378270+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcra has been classified as Green List (High Evidence).",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:17:42.305356+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCRA was added\ngene: PTCRA was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCRA were set to 38422122\nPhenotypes for gene: PTCRA were set to Autoinflammatory syndrome, MONDO:0019751, PTCRA-related\nReview for gene: PTCRA was set to GREEN\nAdded comment: PMID:38422122 reported the identification of 10 individuals from seven kindreds from four different ethnicities with biallelic PTCRA variants (homozygous in five kindreds and compound heterozygous in two kindreds).\r\n\r\nSix of these 10 patients were clinically asymptomatic at their most recent evaluation, while other four patients displayed infection, lymphoproliferation, and/or autoimmunity with an onset during their teens or in adulthood. One of these patients died from SARS-CoV-2 pneumonia at the age of 24 years. Patient 9 had a small thymus on MRI at the age of 2 years, whereas P5 and P6 had no visible thymus at the ages of 13 and 8 years, respectively. Three of the nine patients with pLOF PTCRA variants tested were found to produce autoantibodies, several of which were associated with clinical manifestations. Anti-thyroid autoantibodies and/or clinically overt thyroiditis were found in three of the nine patients. P7, who suffered from recurrent herpes infections, had autoantibodies against type I interferons.\r\n\r\nTwo of those identified variants are hypomorphic and are associated with autoimmunity. In addition, there is extensive functional and epidemiological data available. \nSources: Literature",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:15:09.684296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCRA as ready",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:15:09.666493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcra has been classified as Green List (High Evidence).",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:14:36.211090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCRA were changed from Autoimmunity, HP:0002960; lymphopenia, MONDO:0003783 to Autoinflammatory syndrome, MONDO:0019751, PTCRA-related",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:14:10.175711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCRA as Green List (high evidence)",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:14:10.162415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptcra has been classified as Green List (High Evidence).",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:13:48.381634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, PTCRA-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:06:39.038105+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A3 as ready",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:06:39.026811+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:06:25.791371+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC37A3 as Green List (high evidence)",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:06:25.778229+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:06:16.324524+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC37A3 was added\ngene: SLC37A3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: SLC37A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC37A3 were set to 28041643; 35486108\nPhenotypes for gene: SLC37A3 were set to Retinitis pigmentosa, MONDO:0019200, SLC37A3-related\nReview for gene: SLC37A3 was set to GREEN\nAdded comment: Three unrelated cases reported with biallelic variants in SLC37A3 gene (One case in PMID:28041643 and two cases in PMID:35486108) and with autosomal recessive retinitis pigmentosa. \nSources: Literature",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:05:00.146607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A3 as ready",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:05:00.129459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:00:50.816335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC37A3 as Green List (high evidence)",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T14:00:50.803674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-19T13:58:12.300380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CADM3 were set to PMID: 33889941",
"entity_name": "CADM3",
"entity_type": "gene"
},
{
"created": "2024-04-19T13:57:51.262044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CADM3 as Green List (high evidence)",
"entity_name": "CADM3",
"entity_type": "gene"
},
{
"created": "2024-04-19T13:57:51.248582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cadm3 has been classified as Green List (High Evidence).",
"entity_name": "CADM3",
"entity_type": "gene"
},
{
"created": "2024-04-19T13:57:28.739084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CADM3: Added comment: Two additional families reported with a different variant, de novo in one family.; Changed rating: GREEN; Changed publications: 38074074",
"entity_name": "CADM3",
"entity_type": "gene"
},
{
"created": "2024-04-19T13:54:24.024671+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed was removed from gene: CLCN2.\nTag refuted tag was added to gene: CLCN2.",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-04-19T09:58:56.008646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1698",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: EMILIN1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant 10, MIM#620080, Aortic aneurysm, MONDO:0005160, EMILIN1-related, AR.; Mode of inheritance: None",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2024-04-19T09:58:28.971315+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.84",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: EMILIN1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant 10, MIM#620080, Aortic aneurysm, MONDO:0005160, EMILIN1-related, AR.; Mode of inheritance: None",
"entity_name": "EMILIN1",
"entity_type": "gene"
},
{
"created": "2024-04-19T08:56:31.314886+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CLCN2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004463; Phenotypes: epilepsy (MONDO:0005027); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:34:36.798197+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:34:25.636905+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:34:08.581720+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:33:42.460728+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:33:25.561153+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:33:05.722275+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:32:43.535709+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:32:05.469350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-19T07:31:34.258574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785",
"entity_name": "ACBD6",
"entity_type": "gene"
}
]
}