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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1976",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1974",
"results": [
{
"created": "2020-01-20T11:25:15.465789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1622",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: eif2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2020-01-20T11:24:54.502396+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1622",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: EIF2A as Amber List (moderate evidence)",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2020-01-20T11:24:54.478046+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1622",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: eif2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2020-01-20T11:24:31.106778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1622",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: EIF2A as Amber List (moderate evidence)",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2020-01-20T11:24:31.095302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1622",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: eif2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2020-01-20T11:23:10.260635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1621",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: EIF2A was added\ngene: EIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2A were set to PMID: 31130284\nPhenotypes for gene: EIF2A were set to Intellectual disability, epilepsy\nReview for gene: EIF2A was set to AMBER\nAdded comment: two unrelated families reported, no functional data \nSources: Literature",
"entity_name": "EIF2A",
"entity_type": "gene"
},
{
"created": "2020-01-19T21:48:50.295477+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-19T21:48:50.283614+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-19T21:48:15.826453+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UFM1 as Green List (high evidence)",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-19T21:48:15.814983+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-19T21:47:59.098766+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UFM1 was added\ngene: UFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFM1 were set to 29868776\nPhenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 617899\nAdded comment: Homozygous missense segregates in 2 consanguineous Sudanese families, and a Roma founder muation found to cause hypomyelinating leukodystrophy. \nSources: Expert list",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-01-19T20:58:58.018452+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM63A as Green List (high evidence)",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-19T20:58:58.006918+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem63a has been classified as Green List (High Evidence).",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-19T20:58:46.223064+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM63A was added\ngene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM63A were set to 31587869\nPhenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688\nReview for gene: TMEM63A was set to GREEN\nAdded comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants. \nSources: Expert list",
"entity_name": "TMEM63A",
"entity_type": "gene"
},
{
"created": "2020-01-19T20:40:44.946793+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STX11 was added\ngene: STX11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552\nReview for gene: STX11 was set to RED\nAdded comment: It is unclear whether leukodystrophy is a feature of the condition. There are no reports of the gene associated with white matter changes. \nSources: Expert list",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:50:25.106111+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPART as Green List (high evidence)",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:50:25.094320+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spart has been classified as Green List (High Evidence).",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:49:40.743272+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPART was added\ngene: SPART was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPART were set to 28875386; 15372254\nPhenotypes for gene: SPART were set to Troyer syndrome 275900\nReview for gene: SPART was set to GREEN\nAdded comment: White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described. \nSources: Expert list",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:35:08.271035+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A1 was added\ngene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A1 were set to 29226520\nPhenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182\nReview for gene: SLC25A1 was set to RED\nAdded comment: Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood. \nSources: Expert list",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:11:52.214508+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC13A5 as Amber List (moderate evidence)",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:11:52.202875+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2020-01-19T18:11:36.679869+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC13A5 was added\ngene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A5 were set to 27913086\nPhenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905\nReview for gene: SLC13A5 was set to AMBER\nAdded comment: Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months. \nSources: Expert list",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2020-01-19T16:55:05.152639+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAB11B as Green List (high evidence)",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-01-19T16:55:05.140045+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab11b has been classified as Green List (High Evidence).",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-01-19T16:54:45.996123+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB11B was added\ngene: RAB11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAB11B were set to 29106825\nPhenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807\nReview for gene: RAB11B was set to GREEN\nAdded comment: 5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities. \nSources: Expert list",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-01-19T16:42:58.947824+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992\nReview for gene: PSAT1 was set to RED\nAdded comment: Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency. \nSources: Expert list",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-01-19T16:25:46.131901+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRF1 was added\ngene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRF1 were set to 23443029; 21959744\nPhenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553\nReview for gene: PRF1 was set to RED\nAdded comment: Leukodystrophy does not appear to be a prominent feature of the condition \nSources: Expert list",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-01-19T15:49:16.783490+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPT1 as Amber List (moderate evidence)",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-01-19T15:49:16.771936+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-01-19T15:48:45.207900+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPT1 were set to 5706364; 8576553\nPhenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730\nReview for gene: PPT1 was set to AMBER\nAdded comment: White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene. \nSources: Expert list",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-01-19T14:56:32.732084+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR1A was added\ngene: POLR1A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR1A were set to 28051070\nPhenotypes for gene: POLR1A were set to ataxia; psychomotor retardation; cerebellar and cerebral atrophy; leukodystrophy\nReview for gene: POLR1A was set to RED\nAdded comment: 2 brothers in a single consanguineous family with neurological disease including leukodystrophy with a homozygous variant. Reduced protein expression in patient cells. \nSources: Expert list",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-01-19T14:25:17.800796+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLEKHG2 as Amber List (moderate evidence)",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-01-19T14:25:17.789067+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plekhg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-01-19T14:24:20.466624+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLEKHG2 was added\ngene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHG2 were set to 26573021\nPhenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763\nReview for gene: PLEKHG2 was set to AMBER\nAdded comment: 5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted. \nSources: Expert list",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-01-19T14:08:05.236216+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815\nReview for gene: PHGDH was set to RED\nAdded comment: No clear link to leukodystophy for this gene. \nSources: Expert list",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2020-01-19T13:44:26.665763+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: 31922591, 19168822, 11315202; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-01-19T13:07:40.719839+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Link to leukodystrophy not clear. \nSources: Expert list; to: No clear link to leukodystrophy. \r\nSources: Expert list",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2020-01-19T13:07:18.190116+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OCLN was added\ngene: OCLN was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCLN were set to Pseudo-TORCH syndrome 1 251290\nReview for gene: OCLN was set to RED\nAdded comment: Link to leukodystrophy not clear. \nSources: Expert list",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2020-01-18T20:18:26.278475+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NDUFA2 as Amber List (moderate evidence)",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-18T20:18:26.264893+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndufa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-18T20:18:06.858256+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFA2 was added\ngene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy\nReview for gene: NDUFA2 was set to AMBER\nAdded comment: Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency. \nSources: Expert list",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:41:31.080857+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MRPS16 was added\ngene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498\nReview for gene: MRPS16 was set to RED\nAdded comment: No clear link to leukodystrophy reported. \nSources: Expert list",
"entity_name": "MRPS16",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:35:45.706836+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050\nReview for gene: MPLKIP was set to RED\nAdded comment: White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease. \nSources: Expert list",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:24:44.565869+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HMBS as Amber List (moderate evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:24:44.553802+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:24:26.009923+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:23:54.958653+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:23:22.210983+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMBS were set to 27558376\nPhenotypes for gene: HMBS were set to Acute intermittent porphyria-related leukoencephalopathy\nReview for gene: HMBS was set to RED\nAdded comment: Compound heterozygous variants segregate in three affected individuals in a single family. \nSources: Expert list",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-18T19:09:13.062032+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395\nReview for gene: GTF2H5 was set to RED\nAdded comment: White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition. \nSources: Expert list",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-01-18T18:46:10.146816+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GFPT1 as Amber List (moderate evidence)",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2020-01-18T18:46:10.134022+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gfpt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2020-01-18T18:45:57.482406+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GFPT1 was added\ngene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFPT1 were set to 30635494\nPhenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy\nReview for gene: GFPT1 was set to AMBER\nAdded comment: 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green. \nSources: Expert list",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2020-01-18T18:29:52.748378+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FIG4 as Green List (high evidence)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-01-18T18:29:52.735977+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-01-18T18:29:39.570494+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FIG4 was added\ngene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FIG4 were set to 30740813; 29688489\nPhenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy\nReview for gene: FIG4 was set to GREEN\nAdded comment: Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype. \nSources: Expert list",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:48:50.825488+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390\nReview for gene: ERCC3 was set to RED\nAdded comment: White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3. \nSources: Expert list",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:35:43.339264+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC2 as Amber List (moderate evidence)",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:35:43.327161+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:35:27.283641+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 29451896\nPhenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675\nReview for gene: ERCC2 was set to AMBER\nAdded comment: White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case. \nSources: Expert list",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:09:25.826462+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DEGS1 as ready",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:09:25.815172+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:09:21.828150+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DEGS1 as Green List (high evidence)",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:09:21.816939+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: degs1 has been classified as Green List (High Evidence).",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-18T15:09:01.601452+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DEGS1 was added\ngene: DEGS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18 618404\nReview for gene: DEGS1 was set to GREEN\nAdded comment: Hypomyelinating leukodystorphy is the prominent feature of this condition. \nSources: Expert list",
"entity_name": "DEGS1",
"entity_type": "gene"
},
{
"created": "2020-01-18T14:17:59.994212+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP2U1 as Amber List (moderate evidence)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-01-18T14:17:59.982672+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-01-18T14:17:43.923179+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2U1 were set to 27292318\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive 615030\nReview for gene: CYP2U1 was set to AMBER\nAdded comment: White matter lesions have been reported in the condition, but are rare and not a prominent feature. \nSources: Expert list",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-01-18T14:03:23.014923+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ9 was added\ngene: COQ9 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 614654\nReview for gene: COQ9 was set to RED\nAdded comment: White matter changes are not reported as a prominent feature of the condition. \nSources: Expert list",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2020-01-18T13:50:50.539408+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 612016\nReview for gene: COQ8A was set to RED\nAdded comment: White matter changes don't appear to be a prominent feature of the condition. \nSources: Expert list",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2020-01-18T13:44:26.235417+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BCAP31 as Green List (high evidence)",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2020-01-18T13:44:26.224066+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bcap31 has been classified as Green List (High Evidence).",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2020-01-18T13:44:07.869235+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCAP31 was added\ngene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475\nReview for gene: BCAP31 was set to GREEN\nAdded comment: White matter changes are a feature of the condition. \nSources: Expert list",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2020-01-18T13:32:26.060860+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATPAF2 was added\ngene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATPAF2 were set to 14757859\nPhenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273\nReview for gene: ATPAF2 was set to RED\nAdded comment: A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted. \nSources: Expert list",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2020-01-18T12:04:44.426222+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP7A as ready",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-01-18T12:04:44.412929+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-01-18T12:04:39.007364+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP7A as Green List (high evidence)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-01-18T12:04:38.995648+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-01-18T12:04:15.188897+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7A were set to 26937406; 21924848; 29789304\nPhenotypes for gene: ATP7A were set to Menkes disease, 309400\nReview for gene: ATP7A was set to GREEN\nAdded comment: One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination. \nSources: Expert list",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-01-17T21:14:34.820245+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AIMP2 was added\ngene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature\nMode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIMP2 were set to 29215095\nPhenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006\nReview for gene: AIMP2 was set to RED\nAdded comment: Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted. \nSources: Literature",
"entity_name": "AIMP2",
"entity_type": "gene"
},
{
"created": "2020-01-17T20:59:52.642329+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 2 unrelated families and no functional evidence \nSources: Expert list; to: 2 unrelated families and no functional evidence linking the gene to an ataxia phenotype\r\nSources: Expert list",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-01-17T20:54:34.386136+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACBD5 as Green List (high evidence)",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-01-17T20:54:34.374343+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acbd5 has been classified as Green List (High Evidence).",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-01-17T20:49:41.231897+11:00",
"panel_name": "Leukodystrophy - paediatric_RMH",
"panel_id": 298,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACBD5 was added\ngene: ACBD5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD5 were set to 23105016; 27799409\nPhenotypes for gene: ACBD5 were set to Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy\nReview for gene: ACBD5 was set to GREEN\nAdded comment: One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies. \nSources: Expert list",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-01-17T17:59:38.772429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.850",
"user_name": "Sebastian Lunke",
"item_type": "panel",
"text": "removed gene:TRIM28 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:58:41.292233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.849",
"user_name": "Sebastian Lunke",
"item_type": "panel",
"text": "removed gene:PRKN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:55:00.830414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.848",
"user_name": "Sebastian Lunke",
"item_type": "panel",
"text": "removed gene:DSC2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:53:11.695853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.846",
"user_name": "Sebastian Lunke",
"item_type": "panel",
"text": "removed gene:CHEK2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:10:55.126345+11:00",
"panel_name": "Renal Cystic Disease_SuperPanel",
"panel_id": 263,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from public to promoted",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:09:59.685073+11:00",
"panel_name": "Immunological disorders_SuperPanel",
"panel_id": 239,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from public to promoted",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:06:40.893962+11:00",
"panel_name": "Cardiomyopathy_SuperPanel",
"panel_id": 253,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from public to promoted",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T17:05:39.282735+11:00",
"panel_name": "Arrhythmia_SuperPanel",
"panel_id": 254,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from public to promoted",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T16:59:17.139728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.845",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KCNN3 as ready",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:59:17.128090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.845",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Green List (High Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:59:10.270524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.845",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KCNN3 as Green List (high evidence)",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:59:10.259037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.845",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Green List (High Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:58:50.095512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.844",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: KCNN3 was added\ngene: KCNN3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN3 were set to PMID: 31155282\nPhenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658\nReview for gene: KCNN3 was set to GREEN\ngene: KCNN3 was marked as current diagnostic\nAdded comment: Three unrelated individuals reported \nSources: Literature",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:57:35.617653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1620",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KCNN3 as ready",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:57:35.606095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1620",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Green List (High Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:57:15.479841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1620",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KCNN3 as Green List (high evidence)",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2020-01-17T16:57:15.466466+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1620",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Green List (High Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
}
]
}