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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1580",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1578",
"results": [
{
"created": "2020-09-21T08:59:59.475748+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:59:33.774751+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSUN3 were set to 27356879",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:59:00.469816+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:51:38.136697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIFR were set to 28334964",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:51:08.550925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIFR: Added comment: Bi-allelic variants: At least 28 unique variants (nonsense, frameshift, splicing, missense, gross deletions) have been reported in individuals with Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 22 of which are predicted to cause LOF, suggesting homozygous LOF is the mechanism of disease for this gene. Variants in this gene have been reported in at least 22 probands in four publications.\r\n\r\nMono-allelic variants: associated with CAKUT in 4 individuals, mouse model recapitulates phenotype.; Changed rating: GREEN; Changed publications: 14740318, 20447141, 24988918, 29620724, 28334964; Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559, CAKUT; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:43:11.035910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX7 as ready",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:43:11.027426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Green List (High Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:43:04.863932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:42:49.008258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX7 were set to ",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:42:30.966666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:42:13.781364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31092906, 11030621, 24065826, 31092906, 8631261, 11030621, 24065826; Phenotypes: Myopathy, congenital, progressive, with scoliosis, MIM# 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:29:19.122808+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MADD were changed from intellectual disability to DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities); Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:28:47.419887+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MADD were set to 28940097",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:28:03.330503+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities), Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:27:06.849268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MADD were changed from Intellectual disability; seizures; autonomic dysfunction; endocrine dysfunction to DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities); Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:26:39.895686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MADD: Added comment: OMIM have assigned two disease entities to this gene.\r\n\r\nDEEAH syndrome: 12 families.\r\nNEDDISH syndrome: 8 families.; Changed phenotypes: DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities), Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:26:01.155857+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MADD were changed from Global developmental delay / Intellectual disability / Seizures; Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system to DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities); Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:25:02.592059+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities), Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:16:11.906748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A2 were set to 30740830; 32294086",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:15:38.697365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC12A2: Added comment: Monoallelic :\r\nDD/ID was a feature in >= 6 individuals with monoallelic de novo SLC12A2. An individual with an exon 22 truncating variant was reported to have normal milestones and cognitive function. Exon 21 variants have been described in individuals with rather isolated hearing impairment (possibly some associated motor delay, but normal cognition). Hearing impairment was also reported in 2/6 patients with variants in other exons (1 missense / 1 frameshift).\r\n\r\nBiallelic :\r\nDD/ID was reported in at least 3 individuals in literature. Hearing impairment has been reported on 2 occasions (although this was not probably evaluated in all subjects).\r\n\r\n--- \r\n\r\nMonoallelic SLC12A2 mutations :\r\n\r\n► Individuals with de novo mutations and developmental disorder were first identified by the DDD study (2017 - PMID: 28135719). 5 of them have been reported in detail by McNeill et al (below).\r\n\r\n► McNeill et al (2020 - PMID: 32658972) report on 6 individuals with neurodevelopmental disorder due to de novo SLC12A2 mutation. All presented DD or ID ranging from mild to severe. ASD was reported in 3/6. Sensorineural hearing loss was a feature in 2/6 with the remaining having normal formal evaluations. Brain, cardiac and/or additional malformations were reported in a single individual. Following non-diagnostic prior work-up (CMA, FMR1 or other investigations) trio exome sequencing revealed missense (4/6) or truncating variants (2/6). \r\n\r\nThree additional individuals (incl. a father and his son) with missense variants in exon 21 (NM_001046.3 / p.Glu979Lys and p.Glu980Lys) presented with bilateral sensorineural hearing loss. Speech and/or motor delay reported in these cases were attributed to the hearing impairment/vestibular arreflexia (cognitive abilities not tested). \r\n\r\nSLC12A2 encodes sodium-potassium-chloride transporter 1 (also NKCC1).\r\n\r\nThe GTEx project has identified 8 isoforms. In brain both exon 21-containing/deleted isoforms are expressed (cited Morita et al 2014 - PMID: 24695712). As the authors discuss, RNA-seq of the developing mouse cochlea suggests that the exon 21 containing isoform is the single transcript expressed. Evidence from RNA-seq data (BrainSpan project) and literature suggests that the significant amounts of exon 21 lacking isoforms in fetal brain compensate for the deleterious effects of exon 21 variants and explain the lack of NDD in relevant patients.\r\n\r\nSlc12a2 (NKCC1) null mouse model has demonstrated that the transporter plays a role in accumulation of the potassium rich endolymph in the inner ear, with NKCC1 absence causing sensorineural deafness and imbalance. Slc12a2 display cochlear malformations, loss of hair cells and hearing impairment (cited Delpire et al 1999 - PMID: 10369265). The brain phenotype has not been studied extensively, although loss of Slc12a2 has been shown to inhibit neurogenesis (cited: Magalhães and Rivera et al. - PMID: 27582690).\r\n\r\nSlc12a2 null zebrafish display a collapse of the otic vesicle and reduced endolymph (Abbas and Whitfield, 2009 - PMID: 19633174) relevant to the human hearing disorder.\r\n\r\nIn vitro assessment of NKCC1 ion transporter function in Xenopus laevis, supported the deleterious effect of the identified variants (significant reduction in K+ influx). Using available single cell RNA-seq data the authors further demonstrated that SLC12A2 expressing cells display transcriptomic profiles reflective of active neurogenesis.\r\n\r\n► Delpire et al (2016 - PMID: 27900370 - not reviewed in detail) described a 13 y.o. girl harboring a de novo 11-bp deletion in SLC12A2 exon 22. This individual reached developmental milestones on time and had a NORMAL cognitive function. Hearing was seemingly normal. Features included orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency and multiorgan failure incl. gut and bladder. Exome in the proband, parents and 3 unaffected sibs suggested SLC12A2 as the only candidate for her phenotype. Functional analyses in Xenopus laevis oocytes suggested that a non functional transporter was expressed and trafficked to the membrane as the wt. Detection of the truncated protein at higher molecular sizes suggested either enhanced dimerization or misfolded aggregate. There was no dominant-negative effect of mutant NKCC1. In patient fibroblasts a reduced total and NKCC1-mediated K+ influx.\r\n\r\n► Mutai et al (2020 - PMID: 32294086) report on several individuals from 4 families, harboring variants within exon 21 or - in one case - at it's 3' splice-site (leading to skipping oe this exon at the mRNA level). All subjects were investigated for severe/profound hearing loss (in line with the role of exon 21-included isoforms in cochlea. The variant segregated with hearing impairment in 3 generations of a family while in all other subjects the variant had occured as de novo event. Despite motor delays (e.g. the subject from fam2 could not hold head or sit at the age of 10m / the proband in Fam3 was able to hold his head and walk at 6 and 20 m respectively) behavior and cognition were commented to be within normal range. \r\n\r\n\r\n-----\r\n\r\nBiallelic SLC12A2 mutations:\r\n\r\n► Anazi et al (2017 - PMID: 29288388) briefly reported on a 3 y.o. boy (17DG0776) with central hypotonia, neonatal respiratory distress, failure to thrive, global DD and microcephaly and a skeletal survey suggestive of osteopenia. After non-diagnostic prior investigations (CMA revealing a 1p duplication classified as VUS, extensive metabolic workup), WES revealed a homozygous SLC12A2 splicing variant [NM_001046.2:c.2617-2A>G].\r\n\r\n► Macnamara et al (2019 - PMID: 30740830) described a 5.5 y.o. male with sensorineural hearing loss, profound delays in all developmental areas among several other features (choanal atresia, failure to thrive, respiratory problems, absent sweat and tear production or salivation, GI abnormalities). Genetic testing for several disorders considered (cystic fibrosis, spinal muscular atrophy, sequencing and del/dup analysis of mtDNA) was normal. CMA revealed paternal uniparental isodisomy for chr. 5 and WGS a homozygous 22kb deletion in SLC12A2. This was followed by confirmation of homozygosity in the proband, heterozygosity of the unaffected father, delineation of breakpoints (chr5:127441491-127471419). mRNA studies in patient fibroblasts confirmed deletion of ex2-7, splicing of ex1 directly to ex8 and introduction of a premature stop codon in ex9. qRT-PCR confirmed that mRNA is likely subjected to NMD (expression ~80% of control). Western blot confirmed absence of the protein in the patient's fibroblasts. Again mouse models are thought to recapitulate the hearing defect but also the deficient saliva production (cited Evans et al 2000 - PMID: 10831596). Again the authors speculate a role of SLC12A2 in brain development based on evidence from murine models (migration, dendritic growth, increse in neuron density through regulation of GABAergic signalling (Young et al 2012 - PMID: 23015452). Hypotheses are also made on a regulatory relationship between NKCC1 and CFTR based on mRNA data from the ko mouse model.\r\n\r\n► Stödberg et al (2020 - PMID: 32754646) reported 2 sibs with a complex neurodevelopmental disorder due to compound heterozygosity for a frameshift SLC12A2 variant and a splicing one (NM_001046:c.1431delT and c.2006-1G>A). Both presented hypotonia, neonatal S. aureus parotitis and respiratory problems (incl. apneas). While the older sib died at the age of 22 days, the younger one had persistent respiratory issues incl. a dry respiratory mucosa motivating metabolic, immunology investigations and testing for CF. She displayed microcephaly (OFC -2.5 SD, H was also -3.5SD), severe intellectual disability. MRI was suggestive of white matter and basal ganglia abnormalities. Other features incl. hearing impairment, and lack of tears,saliva and sweat, constipation and intestinal malrotation. There was facial dysmorphism. The variants were the only retained following WGS of the 2 affected sisters, parents and an unaffected brother. The splicing variant was shown to result in skipping of exon 13, while the indel in NMD. Again the authors discuss that the deficient saliva production, impaired hearing and GI problems are recapitulated in the mouse model (several refs provided).; Changed rating: GREEN; Changed publications: 28135719, 32658972, 27900370, 32294086, 29288388, 30740830, 32754646; Changed phenotypes: Kilquist syndrome, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:13:27.983094+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A2 were set to 30740830",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-09-21T08:12:57.699625+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-09-21T05:26:05.329460+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3017",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 32658972, 27900370, 32294086, 29288388, 30740830, 32754646; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-09-20T22:42:52.681183+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\nHLA-B*31:01, carbamazepine and DRESS.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)\r\n\r\nPMID 32714190 (review article)\r\nPhenytoin and B*15:02, B*13:01, B*51:01 (? strength)\r\nOthers (beta-lactams, fluclox, augmentin, nevirapine).; to: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-09-20T22:04:32.952213+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\nHLA-B*31:01, carbamazepine and DRESS.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)\r\n\r\nPMID 32714190 (review article)\r\nPhenytoin and B*15:02, B*13:01, B*51:01 (? strength)\r\nOthers (beta-lactams, fluclox, augmentin, nevirapine).; to: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\nHLA-B*31:01, carbamazepine and DRESS.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)\r\n\r\nPMID 32714190 (review article)\r\nPhenytoin and B*15:02, B*13:01, B*51:01 (? strength)\r\nOthers (beta-lactams, fluclox, augmentin, nevirapine).",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-09-20T22:04:12.057208+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: \r\nHLA-B*15:02 positive: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\nPMID: 25934581\r\nPMID: 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: \r\nHLA-B*15:02: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\nIncreased phenytoin-induced SJS/TEN (moderate association, 23692434).\r\n\r\nPMID 26094938\r\nHLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n25934581, 22378157\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810\r\n\r\nPMID 32714190 (review article)\r\nHLA-B*57:01, carbamazepine and SJS/TEN.\r\nHLA-B*15:11, carbamazepine and SJS/TEN.\r\nHLA-B*31:01, carbamazepine and DRESS.\r\n\r\nHLA-B*13:01, dapsone and DRESS (29458119)\r\n\r\nPMID 32714190 (review article)\r\nPhenytoin and B*15:02, B*13:01, B*51:01 (? strength)\r\nOthers (beta-lactams, fluclox, augmentin, nevirapine).",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-09-20T21:38:24.133079+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.50",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: PMID 29392710\r\nHLA-B*15:02 positive: \r\nGreater risk of carbamazepine-induced SJS/TEN. \r\nGreater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: \r\nHLA-B*15:02 positive: \r\nIncreased carbamazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncrease oxcarbazepine-induced SJS/TEN (CPIC guideline, 29392710).\r\nIncreased lamotrogine-induced SJS/TEN (meta-analysis, 25428396).\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\nPMID: 25934581\r\nPMID: 22378157\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:36:18.455655+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:35:14.818895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS37A as ready",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:35:14.810942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:35:08.407860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive, MIM# 614898",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:34:52.063939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS37A were set to ",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:34:28.187461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:34:11.735147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS37A as Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:34:11.724748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:33:54.999417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:32:50.571002+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS37A as ready",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:32:50.562066+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:32:48.054718+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive; Spastic paraplegia 53, autosomal recessive, 614898, AR to Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:32:31.211438+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS37A as Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:32:31.195766+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:32:14.704741+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:28:33.436529+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland.\r\nSources: Expert list; to: Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland. Bi-allelic variants cause a myasthenic syndrome.\r\nSources: Expert list",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:27:30.339297+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VAMP1 were set to ",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:27:13.048304+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Amber List (moderate evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:27:13.037524+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:27:06.236393+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:26:33.633876+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Spasticity is a prominent feature of this condition. \nSources: Expert list; to: Spasticity is a prominent feature of this condition. Single founder variant in multiple families from Newfoundland.\r\nSources: Expert list",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:26:09.743519+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VAMP1: Changed rating: AMBER",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:25:47.090506+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VAMP1: Changed publications: 22958904; Changed phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:23:24.233627+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:23:24.222274+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:23:16.392299+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:22:44.637032+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC80 as Amber List (moderate evidence)",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:22:44.624205+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:22:36.340003+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: None; Publications: 27513830; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:20:46.759666+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:20:46.747964+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Red List (Low Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:20:36.359634+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTR were changed from Amyloidogenic transthyretin amyloidosis to Amyloidosis, hereditary, transthyretin-related, MIM# 105210",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:20:20.234279+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTR as Red List (low evidence)",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:20:20.223878+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Red List (Low Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:20:10.602948+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: 8960746; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:12:59.695263+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECPR2 as ready",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:12:59.686492+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:12:56.385044+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TECPR2 were changed from to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy; Intellectual disability",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:12:24.007926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TECPR2 were set to ",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:11:56.185224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TECPR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:11:25.818608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031, Autonomic-sensory neuropathy, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:10:38.160349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECPR2 as ready",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:10:38.148958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:10:32.458628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TECPR2 were changed from to Spastic paraplegia 49, autosomal recessive, MIM# 615031; Autonomic-sensory neuropathy",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:10:16.983458+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TECPR2 were set to ",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:09:57.856854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TECPR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:09:41.042041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, MIM# 615031, Autonomic-sensory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:08:30.615523+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECPR2 as ready",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:08:30.605664+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecpr2 has been classified as Green List (High Evidence).",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:08:27.704815+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive, 615031; Spastic paraplegia 49, autosomal recessive,615031, AR to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:08:00.019795+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TECPR2 were set to ",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T17:07:44.973894+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, MIM# 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:59:26.411835+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP1 as Red List (low evidence)",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:59:26.398133+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Red List (Low Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:59:17.787906+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STXBP1: Changed rating: RED",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:59:07.287790+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:59:07.279069+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:58:53.840697+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP1 were changed from Early infantile epileptic encephalopathy 4 to Spasticity; Early infantile epileptic encephalopathy 4",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:58:40.532105+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP1 were set to ",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:58:28.968817+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP1 as Amber List (moderate evidence)",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:58:28.958363+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:57:36.748823+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32815282; Phenotypes: Spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:52:53.314902+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX10 as ready",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:52:53.306222+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:52:46.152432+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:52:37.254622+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX10 as Amber List (moderate evidence)",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:52:37.231072+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:52:23.548901+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 28534044; Phenotypes: PCWH syndrome, MIM# 609136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:48:18.359889+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARS2 as ready",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:48:18.349307+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Red List (Low Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:48:11.612561+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS2 were set to 27279129\nPhenotypes for gene: SARS2 were set to Progressive spastic paraplegia\nReview for gene: SARS2 was set to RED\nAdded comment: Single individual reported with homozygous splicing mutation in SARS2 and with progressive spastic paresis rather than HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis) which is generally associated with missense variants in this gene. \nSources: Literature",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:42:31.414279+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-09-20T16:42:31.404288+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
}
]
}