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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1712",
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"results": [
{
"created": "2020-07-27T09:39:29.067153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCA2: Rating: GREEN; 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: 26468571, 32694869; Phenotypes: Nicolaides-Baraitser syndrome, MIM #601358, Blepharophimosis-intellectual disability syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:38:27.359987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA2 as ready",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:38:27.343659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:36:11.746267+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA2 were changed from to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:35:25.431840+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA2 were set to ",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:34:51.052160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SMARCA2 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": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:34:24.142781+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:33:36.624561+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA2 as ready",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:33:36.613221+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:33:30.026894+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA2 as Green List (high evidence)",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:33:30.014937+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:32:22.579978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MORC2 as ready",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:32:22.571418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:32:15.051221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MORC2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:31:53.357812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MORC2 were set to ",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:31:34.958521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MORC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:31:17.848153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32693025, 26497905, 26659848; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:26:56.374680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32693025; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:26:31.941777+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MORC2 as ready",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:26:31.931556+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:26:27.734395+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688 to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688; Intellectual disability",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:26:00.250673+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MORC2 were set to https://doi.org/10.1016/j.ajhg.2020.06.013",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:25:18.076914+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MORC2 as Green List (high evidence)",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-27T09:25:18.067071+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: morc2 has been classified as Green List (High Evidence).",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-26T21:12:00.991540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2783",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: SMARCA2: Rating: GREEN; 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: 26468571, 32694869; Phenotypes: Nicolaides-Baraitser syndrome, MIM #601358, Blepharophimosis-intellectual disability syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-26T20:38:36.830804+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.14",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: SMARCA2 was added\ngene: SMARCA2 was added to Blepharophimosis. Sources: Literature\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA2 were set to 32694869\nPhenotypes for gene: SMARCA2 were set to Blepharophimosis-intellectual disability syndrome (BIS)\nPenetrance for gene: SMARCA2 were set to Complete\nMode of pathogenicity for gene: SMARCA2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SMARCA2 was set to GREEN\nAdded comment: Cappuccio et al (2020 - PMID: 32694869) report on individuals with de novo SMARCA2 variants with features of a novel, blepharophimosis-intellectual disability syndrome (BIS) but whose clinical presentation did not fit a diagnosis of Nicolaides-Baraitser (NB) syndrome. \r\n\r\nClinical details on 14 subjects with BIS were provided, DD/ID being a universal feature (14/14 - moderate to severe ID). Compared to other syndromes with blepharophimosis, lack of ptosis (observed in only 14% in this cohort), epicanthus inversus and limb abnormalities were proposed to distinguish BIS from other recognizable syndromes with blepharophimosis.\r\n\r\nAll individuals with BIS were found to harbor de novo missense variants. These clustered outside the helicase domain and localized within exons 8,9 and 19. \r\n\r\nFew (6) additional individuals with de novo missense variants (in ex. 8, 14, 19) did not fit either diagnosis (NB or BIS) with the SNVs classified as VUS. \r\n\r\nAccording to Cappuccio et al, most individuals with diagnosis of NB syndrome harbor variants spanning exons 15 to 25 [corresponding to the ATPase domain, which in turn is split in a Helicase ATP-Binding domain (720-912) and a helicase C-terminal domain (1080-1164)]. Most NB-associated variants are missense and rarely in-frame exon deletions.\r\n\r\nAs also commented on CNVs (deletions or duplications) encompassing SMARCA2 have been reported in individuals with DD/ID although these did not fit a diagnosis of NB syndrome (and CNVs were rather not intragenic/limited to SMARCA2) [cited PMIDs: 31530938, 28846756].\r\n\r\nTranscriptomic and methylation signatures confirmed molecular stratification of affected individuals with SMARCA2-related disorders (and controls). \nSources: Literature",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2020-07-26T17:43:18.277100+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2783",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MORC2 were set to https://doi.org/10.1016/j.ajhg.2020.06.013\nPhenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688\nPenetrance for gene: MORC2 were set to unknown\nMode of pathogenicity for gene: MORC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MORC2 was set to GREEN\nAdded comment: The current review is based on a recent report by Sacoto et al (2020 - https://doi.org/10.1016/j.ajhg.2020.06.013).\r\n\r\nWhile several previous studies focused on the phenotype of axonal motor and senory neuropathy in individuals with heterozygous MORC2 pathogenic variants (Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688) some of them presented among others with hypotonia, muscle weakness, intellectual disability, microcephaly or hearing loss [refs provided by Sacoto et al - learning disabilities (in some patients) also listed in OMIM's clinical synopsis].\r\n\r\nSacoto et al present a cohort of 20 individuals having genetic testing for developmental delay or growth failure (with a single one for a diagnosis of sensorimotor neuropathy).\r\n\r\nOverlapping features included DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. The authors comment that features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5). \r\n\r\nAffected subjects were found to harbor in all cases missense variants in the ATPase module of MORC2 [residues 1 to 494 - NM_001303256.1 - the module consists of an ATPase domain (aa 1-265), a transducer S5-like domain (266-494) and a coiled-coiled domain (CC1 - aa 282-361)].\r\n\r\nVariants had occured mostly as de novo events although inheritance from a similarly affected parent was also reported.\r\n\r\nSome of them were recurring within this cohort and/or the literature eg. c.79G>A/p.Glu27Lys (x5), c.260C>T/p.Ser87Leu (x2), c.394C>T/p.Arg132Cys (4x), c.1164C>G/p.Ser388Arg (x2), c.1181A>G/p.Tyr394Cys (x3).\r\n\r\nMORC2 encodes an ATPase involved in chromatin remodeling, DNA repair and transcriptional regulation. Chromatin remodeling and epigenetic silencing by MORC2 is mediated by the HUSH (Human Silencing Hub) complex. Functional studies (MORC2-knockout HeLa cells harboring a HUSH-sensitive GFP reporter were transduced with wt or mt MORC2 followed by measurement of reporter repression) supported the deleterious effect of most variants known at the time (hyperactivation of HUSH-mediating silencing, in line with previous observations).\r\n\r\nOverall this gene can be considered for inclusion in the ID panel with green rating. Also other gene panels (e.g. for short stature, microcephaly, hearing loss, pigmentary retinopathy, etc) if it meets the respective criteria for inclusion. \nSources: Literature",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:16:53.080086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:16:53.072162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbt has been classified as Green List (High Evidence).",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:16:45.449439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:16:27.113358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DBT were set to ",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:16:11.490155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:12:08.855712+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TINF2 as ready",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:12:08.845412+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:11:54.224052+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TINF2 as Green List (high evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:11:54.213069+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:11:12.702301+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TINF2 were set to 21477109; 18252230\nPhenotypes for gene: TINF2 were set to Revesz syndrome, MIM#\t268130\nReview for gene: TINF2 was set to GREEN\nAdded comment: Brain calcifications are part of the phenotype. \nSources: Expert list",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:05:52.741061+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYROBP as ready",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:05:52.727875+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyrobp has been classified as Green List (High Evidence).",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:05:48.958275+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TYROBP as Green List (high evidence)",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:05:48.948352+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyrobp has been classified as Green List (High Evidence).",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:05:23.981723+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYROBP was added\ngene: TYROBP was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TYROBP were set to 30242731\nPhenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM#\t221770\nReview for gene: TYROBP was set to GREEN\nAdded comment: Brain calcifications are part of the phenotype. \nSources: Expert list",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:01:50.984977+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASET2 as ready",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:01:50.975516+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaset2 has been classified as Green List (High Evidence).",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:01:41.634350+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASET2 as Green List (high evidence)",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:01:41.626616+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaset2 has been classified as Green List (High Evidence).",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-07-24T20:00:53.584506+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASET2 was added\ngene: RNASET2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASET2 were set to 19525954\nPhenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM#\t612951\nReview for gene: RNASET2 was set to GREEN\nAdded comment: Intracranial calcification is a feature of this condition. \nSources: Expert list",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-07-24T19:58:06.758738+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-07-24T19:58:06.744568+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-07-24T19:58:03.355842+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALC as Green List (high evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-07-24T19:58:03.346675+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-07-24T19:57:25.091454+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, MIM#\t245200\nReview for gene: GALC was set to GREEN\nAdded comment: Thalamus calcification is a feature of Krabbe disease. \nSources: Expert list",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:49:13.316464+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:49:13.306123+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:48:05.434232+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:46:47.831123+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:46:24.032148+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:45:40.699099+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:45:40.689812+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:45:38.114963+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:45:17.193327+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:44:49.907140+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:37:17.892935+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2U1 as ready",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:37:17.882546+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:37:13.099375+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP2U1 as Green List (high evidence)",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:37:13.089495+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:36:47.821118+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2U1 were set to 23176821\nPhenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, MIM#\t615030\nReview for gene: CYP2U1 was set to GREEN\nAdded comment: Established gene-disease association, basal ganglia calcification is a feature. \nSources: Expert list",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:33:42.275732+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACP5 as ready",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:33:42.266026+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acp5 has been classified as Green List (High Evidence).",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:33:00.595207+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACP5 as Green List (high evidence)",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:33:00.587106+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acp5 has been classified as Green List (High Evidence).",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:32:38.054316+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACP5 was added\ngene: ACP5 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACP5 were set to 21217755; 21217752\nPhenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia\nReview for gene: ACP5 was set to GREEN\nAdded comment: Established gene-disease association, intracranial calcification is part of the phenotype. \nSources: Expert list",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2020-07-24T18:19:27.532559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3507",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20570198; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-07-24T16:18:13.532797+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSK as Green List (high evidence)",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-24T16:18:13.525095+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsk has been classified as Green List (High Evidence).",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-24T16:17:50.836860+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-07-24T16:10:38.489950+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SLC2A2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-24T15:38:25.621916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB3 as ready",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:38:25.611422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb3 has been classified as Red List (Low Evidence).",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:38:15.847290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCB3 was added\ngene: PLCB3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCB3 were set to 29122926\nPhenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM#\t618961\nReview for gene: PLCB3 was set to RED\nAdded comment: Single consanguineous family reported. \nSources: Expert list",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:36:50.550505+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB3 as ready",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:36:50.540106+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb3 has been classified as Red List (Low Evidence).",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:36:44.375999+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCB3 was added\ngene: PLCB3 was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCB3 were set to 29122926\nPhenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM#\t618961\nReview for gene: PLCB3 was set to RED\nAdded comment: Single consanguineous family reported. \nSources: Expert list",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:35:17.713695+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCB3 was added\ngene: PLCB3 was added to Skeletal dysplasia. Sources: Expert list\nMode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCB3 were set to 29122926\nPhenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM#\t618961\nReview for gene: PLCB3 was set to RED\nAdded comment: Single consanguineous family reported. \nSources: Expert list",
"entity_name": "PLCB3",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:32:00.752387+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:32:00.739688+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:31:55.152603+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX1 as Green List (high evidence)",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:31:55.144892+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:31:32.714216+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACOX1 were set to 32169171\nPhenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960\nReview for gene: ACOX1 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder. \nSources: Expert list",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:29:55.916249+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:29:55.908001+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:29:51.956916+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACOX1 as Green List (high evidence)",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:29:51.947068+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:29:42.181380+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. \nSources: Expert list; to: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder.\r\nSources: Expert list",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T15:29:21.473463+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Hereditary Neuropathy - complex. Sources: Expert list\nMode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACOX1 were set to 32169171\nPhenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960\nReview for gene: ACOX1 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. \nSources: Expert list",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:30:48.585794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACOX1 as ready",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:30:48.575843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox1 has been classified as Green List (High Evidence).",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:30:24.547843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:30:08.130972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACOX1 were set to ",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:29:49.638598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACOX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
}
]
}