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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1213",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1211",
"results": [
{
"created": "2021-09-14T10:58:17.878286+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl15 has been classified as Green List (High Evidence).",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:58:15.870673+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL15 were changed from Diamond-Blackfan anemia 12, MIM# 615550 to Diamond-Blackfan anaemia 12, MIM# 615550",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:57:49.837949+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL15 were changed from 615550 ?Diamond-Blackfan anaemia 12; ?Diamond-Blackfan anemia 12, 615550; 615550 ?Diamond-Blackfan anemia 1 to Diamond-Blackfan anemia 12, MIM# 615550",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:57:40.025720+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL15 were set to 23812780",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:57:31.116658+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:57:16.113255+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:57:16.102119+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Green List (High Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:57:13.983032+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from Diamond_Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 612562 Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia 7; 612562 Diamond_Blackfan Anemia 7; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562 to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:56:29.355689+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKLR as ready",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:56:29.345558+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pklr has been classified as Green List (High Evidence).",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:56:25.771414+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKLR were changed from 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200; Pyruvate kinase deficiency to Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Pyruvate kinase deficiency, MIM# 266200",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:56:11.726505+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKLR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:56:00.558337+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900, Pyruvate kinase deficiency, MIM# 266200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:54:20.428023+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO1 as ready",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:54:20.414965+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo1 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:54:17.452487+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Stomatocytosis; Dehydrated hereditary stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Hereditary xerocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:54:06.172763+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO1 were set to 22529292; 23695678",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:53:45.579930+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:53:34.264220+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944700, 23695678, 23479567; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:51:15.714212+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PFKM as ready",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:51:15.703644+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pfkm has been classified as Green List (High Evidence).",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:51:05.278693+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PFKM were changed from Glycogen storage disease VII, 232800; 232800 Glycogen storage disease VII to Glycogen storage disease VII, MIM# 232800",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:50:56.050547+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PFKM were set to 7513946; 2140573",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2021-09-14T10:50:40.051074+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24427140, 27066546, 30792690; Phenotypes: Glycogen storage disease VII, MIM# 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:13:47.994840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NT5C3A as ready",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:13:47.968074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nt5c3a has been classified as Green List (High Evidence).",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:13:41.095821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C3A were changed from to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:13:23.420962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NT5C3A were set to ",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:13:01.798311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NT5C3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:12:42.528545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:11:43.975283+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NT5C3A as ready",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:11:43.965237+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nt5c3a has been classified as Green List (High Evidence).",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:11:41.516669+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C3A were changed from Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:11:29.738180+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NT5C3A were set to 11369620; 12714505",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T21:11:14.922196+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-09-13T20:24:35.092755+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT10B as ready",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-09-13T20:24:35.082872+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt10b has been classified as Green List (High Evidence).",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-09-13T20:24:31.956788+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT10B as Green List (high evidence)",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-09-13T20:24:31.946689+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt10b has been classified as Green List (High Evidence).",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-09-13T18:18:44.310695+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOBTB2 as ready",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T18:18:44.299779+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T18:18:42.114384+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHOBTB2 as Green List (high evidence)",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T18:18:42.104357+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T18:17:45.811879+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHOBTB2 was added\ngene: RHOBTB2 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature\nMode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHOBTB2 were set to 33504645\nPhenotypes for gene: RHOBTB2 were set to Developmental and epileptic encephalopathy 64\t618004; Alternating hemiplegia\nReview for gene: RHOBTB2 was set to GREEN\nAdded comment: Eleven affected patients were identified. All had heterozygous missense variants involving exon 9 of RHOBTB2, confirmed as de novo in 9 cases. All had a complex motor phenotype, including at least 2 different kinds of movement disorder, e.g., ataxia and dystonia. Many patients demonstrated several features fulfilling the criteria for AHC: 10 patients had a movement disorder including paroxysmal elements, and 8 experienced hemiplegic episodes. In contrast to classic AHC, commonly caused by mutations in ATP1A3, these events were reported later only in RHOBTB2 mutation-positive patients from 20 months of age.\r\n\r\nAll had ID, and many had seizures, so this represents an expansion of the phenotype rather than a distinct disorder. \nSources: Literature",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:55:54.615172+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB2 as Amber List (moderate evidence)",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:55:54.604957+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:55:30.347420+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB2: Added comment: Loss-of-function variants in COPB2, a component of the COPI coatomer complex, in six individuals from five unrelated families. 4 are heterozygous and one family with two sibs with homozygous variant, previously reported.\r\nAll presenting with a clinical spectrum of osteoporosis or osteopaenia, many with recurrent fractures, and developmental delay of variable severity. Functional data. \r\n\r\nNote one of the individuals with heterozygous variant had significant microcephaly in addition to the two sibs with bi-allelic variants.; Changed rating: AMBER; Changed publications: 29036432, 34450031; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:53:08.295548+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPB2 as ready",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:53:08.285007+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Green List (High Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:51:23.733418+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB2 as Green List (high evidence)",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:51:23.722626+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Green List (High Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:50:54.941011+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPB2 was added\ngene: COPB2 was added to Osteogenesis Imperfecta. Sources: Literature\nMode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COPB2 were set to 34450031\nPhenotypes for gene: COPB2 were set to Osteoporosis, recurrent fractures and developmental delay\nReview for gene: COPB2 was set to GREEN\nAdded comment: Loss-of-function variants in COPB2, a component of the COPI coatomer complex, in six individuals from five unrelated families. 4 are heterozygous and one family with two sibs with homozygous variant, previously reported.\r\nAll presenting with a clinical spectrum of osteoporosis or osteopaenia, many with recurrent fractures, and developmental delay of variable severity. Functional data. \nSources: Literature",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:44:57.591122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB2 as Green List (high evidence)",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:44:57.580323+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb2 has been classified as Green List (High Evidence).",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:44:29.687082+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COPB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2021-09-13T17:05:20.459774+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.5",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: WNT10B was added\ngene: WNT10B was added to Oligodontia. Sources: Literature\nMode of inheritance for gene: WNT10B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WNT10B were set to 27321946; 29364501; 21554266; 31050392\nPhenotypes for gene: WNT10B were set to Tooth agenesis, selective, 8\tMIM#617073\nPenetrance for gene: WNT10B were set to unknown\nReview for gene: WNT10B was set to GREEN\nAdded comment: PMID: 27321946; 4 unrelated families (including 1 with 3 affecteds). 3x missense and 1x truncating. Luciferase assays demonstrated LoF compared to WT.\r\n\r\n\r\nPMID: 29364501; 7 unrelated families all missense. Arg159Pro identified in 4 families and family#5 also had variants in WNT10A. \r\nRe-evaluation of a previously reported family #8 - 1 heterozygote who only had tooth agenesis while 6 other relatives who were homozygotes also had split hand-foot malformation\r\n\r\nNOTE: No genotype phenotype correlation between AD tooth agenesis and AR split hand-foot malformation - missense have also been reported in SHFM (PMID: 31050392). While it's noted that most reports of SHFM did not investigate oligodontia in their patients or carrier parents, PMID: 21554266 noted their carrier parents were healthy and clinically distinguishable \nSources: Literature",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-09-12T18:48:29.874819+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation type II to Congenital disorder of glycosylation, type IIw, MIM# 619525",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-09-12T18:47:37.357824+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC37A4: Changed phenotypes: Congenital disorder of glycosylation, type IIw 619525",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-09-12T18:46:38.990806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPG1 were changed from Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200 to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200; Retinitis pigmentosa 91, MIM#\t153870",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-09-12T18:46:04.508312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 91, MIM# 153870; Mode of inheritance: None",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-09-12T18:45:19.476209+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPG1 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200; Retinitis pigmentosa 91, MIM#\t153870",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-09-12T18:44:55.117136+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IMPG1: Changed phenotypes: Retinitis pigmentosa, MONDO:0019200, Retinitis pigmentosa 91, MIM# 153870",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:39:58.163664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC11 as ready",
"entity_name": "ABCC11",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:39:58.154368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc11 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC11",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:39:50.986612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC11 were changed from to [Axillary odor, variation in] 117800; [Colostrum secretion, variation in] 117800; [Earwax, wet/dry] 117800",
"entity_name": "ABCC11",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:39:24.506942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC11 as Red List (low evidence)",
"entity_name": "ABCC11",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:39:24.497768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc11 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC11",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:39:07.324272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Axillary odor, variation in] 117800, [Colostrum secretion, variation in] 117800, [Earwax, wet/dry] 117800; Mode of inheritance: None",
"entity_name": "ABCC11",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:32:10.621746+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:32:10.611489+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:32:08.522036+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:31:58.107337+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to 15108122; 15772074",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:31:46.795344+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:31:17.920189+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPA9 as ready",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:31:17.909295+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:31:07.443346+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPA9 were changed from sideroblastic anaemia; 182170 Sideroblastic anaemia 4; 182170 sideroblastic anaemia type 4; Sideroblastic anaemia type 4, 182170 to Anaemia, sideroblastic, 4, MIM# 182170",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:30:52.276577+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26491070; Phenotypes: Anaemia, sideroblastic, 4, MIM# 182170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:25:03.132780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNN4 were set to 26148990; 26198474; 26178367",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:24:40.952755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least three families reported. \nSources: Expert list; to: Well established gene-disease association, more than 10 families and functional data.",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:24:28.228961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNN4: Changed publications: 26148990, 26198474, 26178367, 33519508, 31091145, 28619848; Changed phenotypes: Dehydrated hereditary stomatocytosis 2, MIM# 616689",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:23:56.068542+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNN4 as ready",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:23:56.059705+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnn4 has been classified as Green List (High Evidence).",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:23:48.774110+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN4 were changed from Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2 to Dehydrated hereditary stomatocytosis 2, MIM# 616689",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:23:38.748603+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNN4 were set to 26148990; 26178367",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:23:25.544817+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T20:23:16.037679+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26148990, 26198474, 26178367, 33519508, 31091145, 28619848; Phenotypes: Dehydrated hereditary stomatocytosis 2, MIM# 616689; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T16:40:58.330938+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF1 as ready",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-09-11T16:40:58.321250+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-09-11T16:40:49.468924+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from 613673 Congenital dyserythropoietic anaemia type 4; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-09-11T16:40:39.573205+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 21055716; 29200155",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-09-11T12:01:28.446926+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HK1 as ready",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-09-11T12:01:28.437144+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-09-11T12:01:24.661197+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder to Haemolytic anaemia due to hexokinase deficiency, MIM# 235700",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-09-11T12:01:13.302575+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HK1 were set to 7655856; 12393545",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-09-11T12:00:56.053332+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7655856, 12393545, 33361148, 31119733, 27282571; Phenotypes: Haemolytic anaemia due to hexokinase deficiency, MIM# 235700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-09-11T11:34:19.865403+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCN4 as ready",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T11:34:19.852658+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn4 has been classified as Red List (Low Evidence).",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2021-09-11T11:34:12.598047+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HCN4 were set to 30127718; 29588962\nPhenotypes for gene: HCN4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM#\t619521\nReview for gene: HCN4 was set to RED\nAdded comment: Two families reported. Variant did not segregate with disease in one (PMID 29588962), and was present in two affected sibs from another family reported in PMID 30127718, some functional data to support impact of variant on protein function. \nSources: Expert list",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:09:33.836123+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF23 as ready",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:09:33.826934+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
}
]
}