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{
    "count": 177481,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=2",
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    "results": [
        {
            "created": "2021-12-05T06:12:34.747719Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31970217, 29788902, 28849312, 27862284, 29220674, 25255767; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-05T06:11:23.260621Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "Deleted their review",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-05T06:11:12.416657Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "Deleted their comment",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-05T06:08:24.266371Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32219868; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "AFG3L2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T08:20:41.910951Z",
            "panel_name": "Brain channelopathy",
            "panel_id": 90,
            "panel_version": "1.70",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "changed review comment from: Four infants, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures, born\r\nto consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.; to: Four infants, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures, born\r\nto consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.\r\n\r\nWell established association between mono-allelic variants and a number of phenotypes including episodic ataxia.",
            "entity_name": "CACNA1A",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T08:20:01.140176Z",
            "panel_name": "Brain channelopathy",
            "panel_id": 90,
            "panel_version": "1.70",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: 34267336; Phenotypes: Hypotonia, encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "CACNA1A",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T08:03:28.009597Z",
            "panel_name": "Congenital myopathy",
            "panel_id": 225,
            "panel_version": "2.68",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: MLIP was added\ngene: MLIP was added to Congenital myopathy. Sources: Literature\nMode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLIP were set to 34581780\nPhenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis\nReview for gene: MLIP was set to GREEN\nAdded comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).\r\n\r\nIn 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.\r\n\r\nPatients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. \nSources: Literature",
            "entity_name": "MLIP",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T08:01:28.635225Z",
            "panel_name": "Congenital disorders of glycosylation",
            "panel_id": 25,
            "panel_version": "2.78",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "changed review comment from: Three families reported to date.; to: Bi-allelic variants: Three families reported to date.",
            "entity_name": "STT3A",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T08:01:14.621538Z",
            "panel_name": "Congenital disorders of glycosylation",
            "panel_id": 25,
            "panel_version": "2.78",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "edited their review of gene: STT3A: Added comment: New MOI\r\n\r\nPMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be \"healthy\" until reaching young adulthood\r\nClinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).\r\nFunctional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).; Changed publications to: 23842455, 30701557, 28424003, 34653363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "STT3A",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:59:29.993281Z",
            "panel_name": "Mitochondrial disorders",
            "panel_id": 112,
            "panel_version": "2.63",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: KIAA0391 was added\ngene: KIAA0391 was added to Mitochondrial disorders. Sources: Literature\nMode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0391 were set to 34715011\nPhenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability\nReview for gene: KIAA0391 was set to GREEN\ngene: KIAA0391 was marked as current diagnostic\nAdded comment: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP, HGNC approved name is KIAA0391. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.\r\n\r\n-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism. \r\n-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5. \r\n-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.\r\n-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches. \nSources: Literature",
            "entity_name": "KIAA0391",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:53:13.391070Z",
            "panel_name": "Congenital disorders of glycosylation",
            "panel_id": 25,
            "panel_version": "2.78",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: OSTC was added\ngene: OSTC was added to Congenital disorders of glycosylation. Sources: Literature\nMode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSTC were set to 32267060\nPhenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation\nReview for gene: OSTC was set to RED\nAdded comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.\r\nPatient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.\r\nGnomAD - 10 hets, 0 hom \nSources: Literature",
            "entity_name": "OSTC",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:50:46.418689Z",
            "panel_name": "Genetic epilepsy syndromes",
            "panel_id": 402,
            "panel_version": "2.477",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: KCNC2 was added\ngene: KCNC2 was added to Genetic epilepsy syndromes. Sources: Literature\nMode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC2 were set to 32392612; 31972370\nPhenotypes for gene: KCNC2 were set to epileptic encephalopathy; spastic tetraplegia; opisthotonus attacks; intellectual disability; West syndrome\nReview for gene: KCNC2 was set to AMBER\nAdded comment: PMID: 31972370. De novo missense variant (p.Val471Leu) identified in a child with early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks. \r\n\r\nPMID: 32392612. De novo missense variant (p.Asp167Tyr) identified in a neurofibromatosis type 1 related West syndrome patient. Functional analysis showed a significant reduction of the mean potassium current and a shift in the voltage dependence of steady-state activation. Maternally inherited NF1 variant (p.T1951Nfs*5) also identified, the mother was \"clinically unremarkable\". \nSources: Literature",
            "entity_name": "KCNC2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:47:51.780190Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: NSRP1 was added\ngene: NSRP1 was added to Intellectual disability. Sources: Literature\nMode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSRP1 were set to 34385670\nPhenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability\nReview for gene: NSRP1 was set to GREEN\ngene: NSRP1 was marked as current diagnostic\nAdded comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. \nSources: Literature",
            "entity_name": "NSRP1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:43:45.394918Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: SPRED2 was added\ngene: SPRED2 was added to Intellectual disability. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to 34626534\nPhenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt\nReview for gene: SPRED2 was set to GREEN\ngene: SPRED2 was marked as current diagnostic\nAdded comment: PMID: 34626534\r\nHomozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome. \nSources: Literature",
            "entity_name": "SPRED2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:41:46.977667Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Intellectual disability. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616\nReview for gene: SPATA5L1 was set to GREEN\ngene: SPATA5L1 was marked as current diagnostic\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.\r\n\r\n~53% of patients had ID. \nSources: Literature",
            "entity_name": "SPATA5L1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T07:39:19.595867Z",
            "panel_name": "Mitochondrial disorders",
            "panel_id": 112,
            "panel_version": "2.63",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "TARS2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:55:34.237713Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: OGDHL was added\ngene: OGDHL was added to Intellectual disability. Sources: Literature\nMode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDHL were set to 34800363\nPhenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment\nReview for gene: OGDHL was set to GREEN\nAdded comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \nSources: Literature",
            "entity_name": "OGDHL",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:53:50.406996Z",
            "panel_name": "Mitochondrial disorders",
            "panel_id": 112,
            "panel_version": "2.63",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "reviewed gene: OGDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 32383294; Phenotypes: Developmental delay, ataxia, seizure, raised lactate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "OGDH",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:51:53.366916Z",
            "panel_name": "Undiagnosed metabolic disorders",
            "panel_id": 302,
            "panel_version": "1.501",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: HIBADH was added\ngene: HIBADH was added to Undiagnosed metabolic disorders. Sources: Literature\nMode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBADH were set to 34176136\nPhenotypes for gene: HIBADH were set to organic aciduria\nReview for gene: HIBADH was set to RED\nAdded comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies \nSources: Literature",
            "entity_name": "HIBADH",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:49:32.517322Z",
            "panel_name": "Severe microcephaly",
            "panel_id": 162,
            "panel_version": "2.274",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: ARPC4 was added\ngene: ARPC4 was added to Severe microcephaly. Sources: Literature\nMode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072\nPhenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment\nReview for gene: ARPC4 was set to GREEN\nAdded comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals. \nSources: Literature",
            "entity_name": "ARPC4",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:47:35.192273Z",
            "panel_name": "White matter disorders - adult onset",
            "panel_id": 579,
            "panel_version": "1.36",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "changed review comment from: Mono-allelic LAMB1 variants reported in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All has white matter hyper intensity on imaging.; to: New MOI\r\n\r\nMono-allelic LAMB1 variants reported in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All has white matter hyper intensity on imaging.",
            "entity_name": "LAMB1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:47:22.241621Z",
            "panel_name": "White matter disorders - adult onset",
            "panel_id": 579,
            "panel_version": "1.36",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "edited their review of gene: LAMB1: Added comment: Mono-allelic LAMB1 variants reported in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All has white matter hyper intensity on imaging.; Changed rating: GREEN; Changed publications to: 32548278, 34606115; Changed phenotypes to: Adult-onset leukodystrophy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "LAMB1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:44:16.969770Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: FOXR1 was added\ngene: FOXR1 was added to Intellectual disability. Sources: Literature\nMode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXR1 were set to 34723967\nPhenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay\nReview for gene: FOXR1 was set to AMBER\nAdded comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature",
            "entity_name": "FOXR1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:42:16.500234Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "1.60",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: SLIRP was added\ngene: SLIRP was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature\nMode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLIRP were set to 34426662\nPhenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency\nReview for gene: SLIRP was set to RED\nAdded comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency \nSources: Literature",
            "entity_name": "SLIRP",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:39:36.779519Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "1.60",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonaemia, lactic acidaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "ATP5A1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:35:21.066921Z",
            "panel_name": "Fetal anomalies",
            "panel_id": 478,
            "panel_version": "1.819",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Rasopathy-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "TAB2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:33:20.530038Z",
            "panel_name": "Primary immunodeficiency",
            "panel_id": 398,
            "panel_version": "2.498",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: CARD10 was added\ngene: CARD10 was added to Primary immunodeficiency. Sources: Literature\nMode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARD10 were set to 32238915\nPhenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632\nReview for gene: CARD10 was set to RED\nAdded comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant. \nSources: Literature",
            "entity_name": "CARD10",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T02:30:50.720994Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.60",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: POLR3H was added\ngene: POLR3H was added to Primary ovarian insufficiency. Sources: Expert Review\nMode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3H were set to 34794894; 30830215\nPhenotypes for gene: POLR3H were set to Primary ovarian insufficiency\nReview for gene: POLR3H was set to AMBER\nAdded comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation. \nSources: Expert Review",
            "entity_name": "POLR3H",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T01:03:22.162751Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.60",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: POLR2C was added\ngene: POLR2C was added to Primary ovarian insufficiency. Sources: Literature\nMode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2C were set to 34794894; 29367954\nPhenotypes for gene: POLR2C were set to Primary ovarian insufficiency\nReview for gene: POLR2C was set to AMBER\nAdded comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.\r\nTwo missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1). \nSources: Literature",
            "entity_name": "POLR2C",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T01:01:22.666187Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.60",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: KHDRBS1 was added\ngene: KHDRBS1 was added to Primary ovarian insufficiency. Sources: Literature\nMode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015\nPhenotypes for gene: KHDRBS1 were set to Premature ovarian failure\nReview for gene: KHDRBS1 was set to GREEN\ngene: KHDRBS1 was marked as current diagnostic\nAdded comment: 4 individuals in 3 unrelated families and a supporting mouse model\r\nPMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.\r\nSCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)\r\nPMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count. \r\nPMID: 20881015 - supporting null mouse model. Female mice were subfertile. \nSources: Literature",
            "entity_name": "KHDRBS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-04T00:59:11.039521Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.236",
            "user_name": "Zornitza Stark",
            "item_type": "entity",
            "text": "gene: HKDC1 was added\ngene: HKDC1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HKDC1 were set to 30085091\nPhenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614\nReview for gene: HKDC1 was set to RED\nAdded comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant. \nSources: Literature",
            "entity_name": "HKDC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T16:14:27.526891Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.8",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: NSD1.",
            "entity_name": "NSD1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T16:14:11.621998Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.8",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: NSD1 as Amber List (moderate evidence)",
            "entity_name": "NSD1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T16:14:11.618644Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.8",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (Definitive). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
            "entity_name": "NSD1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T16:14:11.590151Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.8",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: nsd1 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "NSD1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T15:53:12.172859Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_phenotype tag was added to gene: GPC3.",
            "entity_name": "GPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T15:52:58.990181Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_phenotype tag was added to gene: AKT2.",
            "entity_name": "AKT2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T15:52:53.221076Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_expert_review tag was added to gene: AKT2.",
            "entity_name": "AKT2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T15:51:04.331704Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_expert_review tag was added to gene: GPC3.",
            "entity_name": "GPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T14:27:26.391282Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag watchlist tag was added to gene: UCP2.",
            "entity_name": "UCP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T14:27:18.184391Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: UCP2 as Amber List (moderate evidence)",
            "entity_name": "UCP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T14:27:18.181111Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.",
            "entity_name": "UCP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T14:27:18.147887Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.7",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: ucp2 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "UCP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T14:26:02.046971Z",
            "panel_name": "Congenital hyperinsulinism",
            "panel_id": 308,
            "panel_version": "2.6",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: UCP2 were changed from Hyperinsulinism to Hyperinsulinism, MONDO:0002177",
            "entity_name": "UCP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:45:05.232216Z",
            "panel_name": "Pituitary hormone deficiency",
            "panel_id": 483,
            "panel_version": "2.10",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: RNPC3 as Amber List (moderate evidence)",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:45:05.224919Z",
            "panel_name": "Pituitary hormone deficiency",
            "panel_id": 483,
            "panel_version": "2.10",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:45:01.801398Z",
            "panel_name": "Pituitary hormone deficiency",
            "panel_id": 483,
            "panel_version": "2.9",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag watchlist tag was added to gene: RNPC3.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:44:55.875856Z",
            "panel_name": "Pituitary hormone deficiency",
            "panel_id": 483,
            "panel_version": "2.9",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "edited their review of gene: RNPC3: Added comment: PMID:33650182 a third case reported with growth failure, second case with ID and growth failure. In this case the patient has GH and PRL deficiencies, as well as undetectably low IGF1 levels. This is the second case where there are >2 pituitary hormone deficiency. Thefore this gene should be promoted from Red to Amber.; Changed rating: AMBER; Changed publications to: 33650182",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:43:27.724966Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.96",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "changed review comment from: Comment on publications: PMID:33650182 a third case reported with growth failure and ID.; to: Comment on publications: PMID:33650182 a third case reported with growth failure and second case with ID",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:43:03.809232Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "changed review comment from: PMID:33650182 a third case reported with growth failure and ID. This is the second case where a patient with a variant in RNPC3 has ID. Therefore the Amber rating.; to: PMID:33650182 a third case reported with growth failure. This is the second case where a patient with a variant in RNPC3 has ID. Therefore the Amber rating.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:42:47.003650Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "changed review comment from: PMID:33650182 a third case reported with growth failure and ID.; to: PMID:33650182 a third case reported with growth failure and ID. This is the second case where a patient with a variant in RNPC3 has ID. Therefore the Amber rating.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:42:18.801385Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "changed review comment from: Comment on list classification: Promoted from Red to Amber based on my other review.; to: Comment on list classification: Promoted from Red to Amber based on my other review.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:41:31.731789Z",
            "panel_name": "Pituitary hormone deficiency",
            "panel_id": 483,
            "panel_version": "2.9",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:41:07.768976Z",
            "panel_name": "Pituitary hormone deficiency",
            "panel_id": 483,
            "panel_version": "2.8",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:40:59.018531Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag watchlist tag was added to gene: RNPC3.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:35:11.336947Z",
            "panel_name": "IUGR and IGF abnormalities",
            "panel_id": 131,
            "panel_version": "1.49",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: RNPC3 as Green List (high evidence)",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:35:11.334276Z",
            "panel_name": "IUGR and IGF abnormalities",
            "panel_id": 131,
            "panel_version": "1.49",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoted from Amber to Green. PMID:33650182 a third case reported with growth failure and ID. There is now enough evidence to support a gene-disease association.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:35:11.319657Z",
            "panel_name": "IUGR and IGF abnormalities",
            "panel_id": 131,
            "panel_version": "1.49",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: rnpc3 has been classified as Green List (High Evidence).",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:34:35.288278Z",
            "panel_name": "IUGR and IGF abnormalities",
            "panel_id": 131,
            "panel_version": "1.48",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:34:21.861834Z",
            "panel_name": "IUGR and IGF abnormalities",
            "panel_id": 131,
            "panel_version": "1.47",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:34:03.169533Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1478",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:33:14.329840Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1477",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160; developmental delay/intellectual deficiency and delayed puberty to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:31:50.376797Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1476",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: RNPC3 as Amber List (moderate evidence)",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:31:50.374091Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1476",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoted from Red to Amber based on my other review.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:31:50.359803Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1476",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:31:06.404489Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1475",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "edited their review of gene: RNPC3: Added comment: PMID:33650182 a third case reported with growth failure and ID.; Changed rating: AMBER; Changed publications to: 24480542, 29866761, 32462814, 33650182",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:30:31.456425Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.96",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: RNPC3.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:30:24.948041Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.96",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "edited their review of gene: RNPC3: Added comment: There is now enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.; Changed rating: GREEN",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:29:56.364643Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.96",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: RNPC3 were changed from Pituitary hormone deficiency, combined or isolated, 7, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:29:51.540716Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.95",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, 618160",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:29:33.575928Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.94",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on publications: PMID:33650182 a third case reported with growth failure and ID.",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T11:29:33.561519Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.94",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814",
            "entity_name": "RNPC3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T07:50:25.840431Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "changed review comment from: Freitas, et al. (2020, PMID 31970217) presented 52 years of age Brazilian female case with dystonia (onset at age of 25 years) who had additional clinical features (but without facial dysmorphism and brain abnormalities). Whole-exome-sequencing showed the presence of ACTB c.547C>T (p.Arg183Trp) variant. This variant was absent from gnomAD v2.1.1 as of December 2021.\r\n\r\nSkogseid, et al. (2018, PMID 29788902) presented 23 years old female case with dystonia (age at onset 13 years), mild dysmorphic facial traits and additional clinical features (but with grossly maintained brain structure). Whole-exome-sequencing revealed heterozygous ACTB c.547C>T (p.Arg183Trp) variant. The case was negative for the aCGH analysis. \r\n\r\nZech, et al. (2017, PMID 28849312) presented 9 unrelated cases with combined and/or complex dystonia (8 of European and 1 of Asian origin). Whole-exome-sequencing revealed de novo  ACTB c.547C>T (p.Arg183Trp) variant in 39-years-old Czech male case with complex dystonia (age of onset at 24 years) who had additional clinical features (but with normal brain MRI). The variant absence in parents has been confirmed through Sanger sequencing. \r\n\r\nEggink, et al. (2017, PMID 27862284) presented a family with dystonia. Whole-exome-sequencing revealed ACTB c.547C>T (p.Arg183Trp) variant in 2 family members: 22 years old female with dystonia (age of onset at 19 years) who in addition to other clinical features showed high-arched eyebrows (but with normal brain MRI results); her 49 years old mother with dystonia (who at age 16 experienced hands trembling, at age 21 she had writer’s cramp diagnosed) and additional clinical features.\r\n\r\nCuvertino, et al. (2017, PMID 29220674) analyzed data of more than 15,000 suspected genetic development disorder individuals, 26 cases with 7p22.1 deletions and 4,293 trios from the Deciphering Developmental Disorders study. The ACTB c.1097dupG (p.Ser368Leufs*13) variant has been found de novo in 12 years old heterozygous male case (of United Kingdom origin; Table S1) who had dystonia (as well as additional clinical features; Table 1). This variant was absent from gnomAD v2.1.1 as of December 2021.\r\n(Please note that ACTB c.1097dupG (p.Ser368Leufs*13) results in extension of protein)\r\n\r\nHundt, et al. (2014, PMID 25255767) presented in vitro functional study on Sf9 cells. The results showed that ACTB c.547C>T (p.Arg183Trp) variant resulted in 3 times higher inhibition of DNase I-mediated nucleic acid cleavage (p < 0.0001; Fig.2A), unchanged thermal stability (Fig. 2B), nucleotide exchange from actin monomer was 2.4 times slower (p = 0.0113; Fig.3), 1.9 times faster half-time polymerization (p = 0.0006; Fig. 4A), 1.7 times higher ATP turnover (Fig. 4B), significantly reduced half-time of the depolymerization (Fig. 4C), close to normal binding to the profilin II (Fig. 5A), 4 times lower ability to activate ATPase of nonmuscle myosin-2A isoform (Fig. 6), in comparison to the wild-type. The authors also carried out the computational analysis and showed that this variant impaired the opening of the nucleotide cleft (Fig. 7C, Fig. 8B).; to: Freitas, et al. (2020, PMID: 31970217) presented 52 years of age Brazilian female case with dystonia (onset at age of 25 years) who had additional clinical features (but without facial dysmorphism and brain abnormalities). Whole-exome-sequencing showed the presence of ACTB c.547C>T (p.Arg183Trp) variant. This variant was absent from gnomAD v2.1.1 as of December 2021.\r\n\r\nSkogseid, et al. (2018, PMID: 29788902) presented 23 years old female case with dystonia (age at onset 13 years), mild dysmorphic facial traits and additional clinical features (but with grossly maintained brain structure). Whole-exome-sequencing revealed heterozygous ACTB c.547C>T (p.Arg183Trp) variant. The case was negative for the aCGH analysis. \r\n\r\nZech, et al. (2017, PMID: 28849312) presented 9 unrelated cases with combined and/or complex dystonia (8 of European and 1 of Asian origin). Whole-exome-sequencing revealed de novo  ACTB c.547C>T (p.Arg183Trp) variant in 39-years-old Czech male case with complex dystonia (age of onset at 24 years) who had additional clinical features (but with normal brain MRI). The variant absence in parents has been confirmed through Sanger sequencing. \r\n\r\nEggink, et al. (2017, PMID: 27862284) presented a family with dystonia. Whole-exome-sequencing revealed ACTB c.547C>T (p.Arg183Trp) variant in 2 family members: 22 years old female with dystonia (age of onset at 19 years) who in addition to other clinical features showed high-arched eyebrows (but with normal brain MRI results); her 49 years old mother with dystonia (who at age 16 experienced hands trembling, at age 21 she had writer’s cramp diagnosed) and additional clinical features.\r\n\r\nCuvertino, et al. (2017, PMID: 29220674) analyzed data of more than 15,000 suspected genetic development disorder individuals, 26 cases with 7p22.1 deletions and 4,293 trios from the Deciphering Developmental Disorders study. The ACTB c.1097dupG (p.Ser368Leufs*13) variant has been found de novo in 12 years old heterozygous male case (of United Kingdom origin; Table S1) who had dystonia (as well as additional clinical features; Table 1). This variant was absent from gnomAD v2.1.1 as of December 2021.\r\n(Please note that ACTB c.1097dupG (p.Ser368Leufs*13) results in extension of protein)\r\n\r\nHundt, et al. (2014, PMID: 25255767) presented in vitro functional study on Sf9 cells. The results showed that ACTB c.547C>T (p.Arg183Trp) variant resulted in 3 times higher inhibition of DNase I-mediated nucleic acid cleavage (p < 0.0001; Fig.2A), unchanged thermal stability (Fig. 2B), nucleotide exchange from actin monomer was 2.4 times slower (p = 0.0113; Fig.3), 1.9 times faster half-time polymerization (p = 0.0006; Fig. 4A), 1.7 times higher ATP turnover (Fig. 4B), significantly reduced half-time of the depolymerization (Fig. 4C), close to normal binding to the profilin II (Fig. 5A), 4 times lower ability to activate ATPase of nonmuscle myosin-2A isoform (Fig. 6), in comparison to the wild-type. The authors also carried out the computational analysis and showed that this variant impaired the opening of the nucleotide cleft (Fig. 7C, Fig. 8B).",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T07:49:25.877142Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31970217, 29788902, 28849312, 27862284, 29220674, 25255767; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-03T07:47:56.636898Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "Deleted their review",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-02T13:24:38.079338Z",
            "panel_name": "Early onset dystonia",
            "panel_id": 192,
            "panel_version": "1.99",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: 31970217, 29788902, 28849312, 27862284, 29220674, 25255767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "ACTB",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-02T11:40:22.799813Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.133",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "changed review comment from: Only STR in this gene is associated with CANVAS / ataxia. Addition of this gene to the panel will result only in unnecessary load of RFC1 SNV/indel/CNV analysis, which are not related to human disorder.; to: Only STR in this gene is associated with CANVAS / ataxia. Addition of this gene to the panel will result only in unnecessary load of RFC1 SNV/indel/CNV analysis, which are not related to human disorder.\r\nAdditionallly, RFC1 repeat expansion, is commonly associated with sensory neuropathy (at the moment of presentation usually without clinically prominent ataxia) ,so the STR should be added to the neuropathy panel as well, not just ataxia (PMID: 33969391). ",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-02T11:38:44.120647Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.133",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: RFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-02T11:35:11.467004Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1475",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: ANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34218362; Phenotypes: Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "ANK3",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:23:17.532923Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.133",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: RFC1 as Amber List (moderate evidence)",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:23:17.528638Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.133",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoting this gene from grey to amber, but noting that it is repeat expansions within an intron that is associated with the CANVAS phenotype, not SNVs within the protein coding region.  Added to the list of STRs to be added.",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:23:17.509203Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.133",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: rfc1 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:21:35.440451Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.132",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809; chronic idiopathic axonal polyneuropathy; chronic polyneuropathy, MONDO:0003335",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:21:17.746025Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.131",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Publications for gene: RFC1 were set to 30926972",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:20:59.823520Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.130",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag STR tag was added to gene: RFC1.",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T17:20:08.644126Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.130",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "changed review comment from: The gene is associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) #614575 (AR) with two repeat expansions cited as the allelic variants. \r\n\r\nPMID: 30926972 - Cortese et al 2019 - found a recessive intronic AAGGG repeat expansion in the RFC1 gene as a cause of familial CANVAS in 11 families.  4 SNPs around RFC1 were shared by all individuals except in family 5, suggesting a founder haplotype. They found an additional 33 sporadic cases carrying the recessive AAGGG repeat expansion in a cohort of 150 patients diagnosed with sporadic late-onset ataxia (22%).  They also note that all sporadic cases with the repeat expansion, except for one individual, shared the same haplotype as familial CANVAS cases. Although the expansion size varied across different families, ranging from around 400 to 2000 repeats, in the majority of cases approximately 1000 repeats were observed.  In 304 healthy controls, 4/608 chromosomes (0.7%) chromosomes carried an AAGGG expansion in the heterozygous state. 3 other conformations were observed: (AAAAG)11 (75.5%); (AAAAG)exp(13.0%); and (AAAGG)exp (7.9%).  They did not observe a reduced level of RFC1 expression at either the transcript or the protein level in CANVAS patients. \r\n\r\nPMID: 31824583 - Akçimen et al 2019 - looked at RFC1 repeat expansions in cohort of Brazilian cases and two cohorts of Canadian cases. 1 Brazilian and 1 Canadian case were found to carry the causative biallelic AAGGG repeat expansion.  Two novel repeat sequences were found in the heterozygous state; AAGAG and AGAGG.\r\n\r\nPMID: 32851396 - Beecroft et al 2020 - describe a (AAAGG)10-25(AAGGG)exp found in New Zealand Māori and Cook Island Māori individuals which was the cause of CANVAS in all patients. Patients in 2 families also had small number of repeats of the benign variant allele (AAAGG)4-6 at the distal end of the RFC1 pathogenic expansion. The 4 patients with WGS data were found to share the same core haplotype as described in European populations in Cortese et al 2019, plus an additional region. \r\n\r\nPMID: 32582864 - Syriani et al 2020 - 29 patients from North America were identified with biallelic repeat expansions in RFC1 (AAGGG) (3.2% of total). Of these 29 patients, 8 (28%) had a clinical diagnosis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), 14 had cerebellar ataxia with neuropathy (48%), 4 had pure cerebellar ataxia (14%). \r\n\r\nPMID: 33969391 - Curro et al 2021 -  retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy). Patients previously diagnosed with CANVAS or with a family history of CANVAS were not included. 43 patients (34%) with sensory neuropathy had biallelic AAGGG repeat expansions in RFC1and in none with sensory-motor neuropathy.; to: The gene is associated with Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) #614575 (AR) with two repeat expansions cited as the allelic variants. \r\n\r\nThere is data to suggest a common haplotype between most cases but this appears to be quite ancient (25000 yo) and so the cases from individuals from different countries can probably be counted as being unrelated.  The mechanism of action of this intronic repeat expansion is not yet known. \r\n\r\n = AAGGG repeat expansion =\r\n\r\nPMID: 30926972 - Cortese et al 2019 - found a recessive intronic AAGGG repeat expansion in the RFC1 gene as a cause of familial CANVAS in 11 families.  4 SNPs around RFC1 were shared by all individuals except in family 5, suggesting a founder haplotype. They found an additional 33 sporadic cases carrying the recessive AAGGG repeat expansion in a cohort of 150 patients diagnosed with sporadic late-onset ataxia (22%).  They also note that all sporadic cases with the repeat expansion, except for one individual, shared the same haplotype as familial CANVAS cases. Although the expansion size varied across different families, ranging from around 400 to 2000 repeats, in the majority of cases approximately 1000 repeats were observed.  In 304 healthy controls, 4/608 chromosomes (0.7%) chromosomes carried an AAGGG expansion in the heterozygous state. 3 other conformations were observed: (AAAAG)11 (75.5%); (AAAAG)exp(13.0%); and (AAAGG)exp (7.9%).  They did not observe a reduced level of RFC1 expression at either the transcript or the protein level in CANVAS patients. \r\n\r\nPMID: 31824583 - Akçimen et al 2019 - looked at RFC1 repeat expansions in cohort of Brazilian cases and two cohorts of Canadian cases. 1 Brazilian and 1 Canadian case were found to carry the causative biallelic AAGGG repeat expansion.  Two novel repeat sequences were found in the heterozygous state; AAGAG and AGAGG.\r\n\r\nPMID: 31230722 - Rafehi et al 2019 -  bioinformatics paper looking at using Expansion Hunter de novo on WGS data but also reports RFC1 (AAGGG)exp in 18/22 CANVAS families.  Also states that the core ancestral haplotype is estimated to have arisen in Europe more than twenty-five thousand years ago. \r\n\r\nPMID: 32851396 - Beecroft et al 2020 - describe a (AAAGG)10-25(AAGGG)exp found in New Zealand Māori and Cook Island Māori individuals which was the cause of CANVAS in all patients. Patients in 2 families also had small number of repeats of the benign variant allele (AAAGG)4-6 at the distal end of the RFC1 pathogenic expansion. The 4 patients with WGS data were found to share the same core haplotype as described in European populations in Cortese et al 2019, plus an additional region. \r\n\r\nPMID: 32582864 - Syriani et al 2020 - 29 patients from North America were identified with biallelic repeat expansions in RFC1 (AAGGG) (3.2% of total). Of these 29 patients, 8 (28%) had a clinical diagnosis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), 14 had cerebellar ataxia with neuropathy (48%), 4 had pure cerebellar ataxia (14%). \r\n\r\nPMID: 32694621 - Tsuchiya et al 2020 - found intronic (AAGGG) repeat expansions in RFC1 in 3 (12%) of the familial Japanese patients with CANVAS and 1 (8.5%) of the sporadic ones.\r\n\r\nPMID: 33969391 - Curro et al 2021 -  retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy). Patients previously diagnosed with CANVAS or with a family history of CANVAS were not included. 43 patients (34%) with sensory neuropathy had biallelic AAGGG repeat expansions in RFC1and in none with sensory-motor neuropathy.\r\n\r\n= ACAGG repeat expansion =\r\n\r\nPMID: 33103729 - Scriba et al 2020 - report 3 patients with CANVAS from 2 families (2 brothers who reside in Indonesia, but are of Chinese descent, and a isolated female proband from the island nation of Niue) , with a novel, likely pathogenic RFC1 repeat motif (ACAGG)exp. These patients show additional clinical features including fasciculations and elevated creatine kinase levels. They share the core haplotype described in Cortese et al 2019 and Beecroft et al 2020.  The RFC1 (ACAGG) motif was found in 7 individuals from 26 745 samples from gnomAD v3; 2 African, 4 South Asian, 1 East Asian.\r\n\r\nPMID: 32694621 - Tsuchiya et al 2020 - reports a RFC1 (ACAGG) exp in 1 Japanese individual with sporadic CANVAS.",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T15:37:21.493132Z",
            "panel_name": "DDG2P",
            "panel_id": 484,
            "panel_version": "2.53",
            "user_name": "Anna de Burca",
            "item_type": "entity",
            "text": "gene: FGF5 was added\ngene: FGF5 was added to DDG2P. Sources: Literature\nMode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF5 were set to PMID: 24989505\nPhenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes\nPenetrance for gene: FGF5 were set to Complete\nReview for gene: FGF5 was set to GREEN\nAdded comment: Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype. \nSources: Literature",
            "entity_name": "FGF5",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T12:38:22.200443Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.130",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30926972, 31824583, 32851396, 32582864, 33969391; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575, cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, MONDO:0013809, chronic idiopathic axonal polyneuropathy, chronic polyneuropathy, MONDO:0003335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "RFC1",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T12:12:08.685250Z",
            "panel_name": "DDG2P",
            "panel_id": 484,
            "panel_version": "2.53",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "entity_name": "CNKSR2",
            "entity_type": "gene"
        },
        {
            "created": "2021-12-01T11:53:45.486313Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.278",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: COQ4 was added\ngene: COQ4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ4 were set to PMID: 30225196; 33704555; 30847826\nPhenotypes for gene: COQ4 were set to Childhood onset ataxia\nPenetrance for gene: COQ4 were set to Complete\nReview for gene: COQ4 was set to GREEN\nAdded comment: The phenotype of COQ4 deficiency is very broad. In the three publications, at 6 individuals from 4 families are reported as having childhood onset ataxia. \nSources: Literature",
            "entity_name": "COQ4",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T21:42:49.573810Z",
            "panel_name": "Hereditary Erythrocytosis",
            "panel_id": 157,
            "panel_version": "1.35",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: SH2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34440325, 34021251; Phenotypes: Myeloproliferative neoplasm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "SH2B3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T21:37:52.586517Z",
            "panel_name": "Hereditary Erythrocytosis",
            "panel_id": 157,
            "panel_version": "1.35",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to Hereditary Erythrocytosis. Sources: Literature\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A10 were set to PMID: 22341971; 22341972\nPhenotypes for gene: SLC30A10 were set to Erythrocytosis; Polycytemia; Hypermanganesemia; Parkinsonism; Dystonia; Liver disease\nReview for gene: SLC30A10 was set to GREEN\nAdded comment: In 6 individuals from two families and 14 individuals from 8 families reported in  in 22341971 and 22341972, respectively - all have erythrocytosis/polycytemia. \nSources: Literature",
            "entity_name": "SLC30A10",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T21:26:52.222007Z",
            "panel_name": "Hereditary Erythrocytosis",
            "panel_id": 157,
            "panel_version": "1.35",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: PIEZO1 was added\ngene: PIEZO1 was added to Hereditary Erythrocytosis. Sources: Literature\nMode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIEZO1 were set to PMID: 33181827\nPhenotypes for gene: PIEZO1 were set to Erythrocytosis\nPenetrance for gene: PIEZO1 were set to unknown\nMode of pathogenicity for gene: PIEZO1 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: PIEZO1 was set to GREEN\nAdded comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis. \nSources: Literature",
            "entity_name": "PIEZO1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T21:18:35.727947Z",
            "panel_name": "Hereditary Erythrocytosis",
            "panel_id": 157,
            "panel_version": "1.35",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: BPGM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29790589; Phenotypes: Erythrocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "BPGM",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T21:09:31.574867Z",
            "panel_name": "Hereditary neuropathy NOT PMP22 copy number",
            "panel_id": 846,
            "panel_version": "1.67",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20472204; Phenotypes: Sandhoff disease, neuropathy, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "HEXB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T20:55:16.924419Z",
            "panel_name": "Corneal dystrophies",
            "panel_id": 658,
            "panel_version": "1.7",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: TCF4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None",
            "entity_name": "TCF4",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T16:59:18.073955Z",
            "panel_name": "Corneal dystrophies",
            "panel_id": 658,
            "panel_version": "1.7",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Added comment: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021).",
            "entity_name": "TCF4",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T16:59:18.045851Z",
            "panel_name": "Corneal dystrophies",
            "panel_id": 658,
            "panel_version": "1.7",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Publications for gene: TCF4 were set to 29526280; 26401622",
            "entity_name": "TCF4",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T14:52:37.611210Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.100",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: ENO1 as Red List (low evidence)",
            "entity_name": "ENO1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-30T14:52:37.603268Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.100",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.",
            "entity_name": "ENO1",
            "entity_type": "gene"
        }
    ]
}