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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1762",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1760",
"results": [
{
"created": "2020-06-24T15:46:17.175106+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOSR2 was added\ngene: GOSR2 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOSR2 were set to PMID: 30363482; 29855340\nPhenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6\t614018\nAdded comment: PMID: 30363482 - 1 chet patient, no mention of myopathy or muscular dystrophy. Patient had a missense and inframe deletion of a single amino acid.\r\n\r\nPMID: 29855340 - 1 chet family (2 siblings) with neonatal hypotonia, muscle weaknes and elevated CK levels. One sibling died before genotyping, the other was found to be chet for a missense/start loss variant. Patient had dystrophic muscle biopsy with hypoglycosylation of α-dystroglycan\r\nPaper reviews other patients and notes muscle histology and EMG were normal, no specific abnormalities reported (most carried recurring variant p.Gly144Trp).\r\n\r\nSummary: single report of muscular dystrophy but only report of a start loss variant. All others are of an inframe deletion or the recurring missense. \nSources: Expert list",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:20.077728+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IL17RD was added\ngene: IL17RD was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IL17RD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.992346+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HS6ST1 was added\ngene: HS6ST1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HS6ST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HS6ST1 were set to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.915047+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome 137920 AD",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.840399+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS2 was added\ngene: HARS2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.764486+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNRHR was added\ngene: GNRHR was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia 146110",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.689382+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNRH1 was added\ngene: GNRH1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNRH1 were set to ?Hypogonadotropic hypogonadism 12 with or without anosmia 614841",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.603296+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLRT3 was added\ngene: FLRT3 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FLRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.525745+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.450102+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGF17 was added\ngene: FGF17 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.372801+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FEZF1 was added\ngene: FEZF1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FEZF1 were set to Hypogonadotropic hypogonadism 22, with or without anosmia 616030",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.290812+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ESR2 was added\ngene: ESR2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ESR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ESR2 were set to ?Ovarian dysgenesis 8 618187",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.205445+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ERCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ERCC6 were set to Premature ovarian failure 11 616946",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.127746+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DUSP6 was added\ngene: DUSP6 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:19.049200+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DIAPH2 was added\ngene: DIAPH2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DIAPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: DIAPH2 were set to ?Premature ovarian failure 2A 300511",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:18.970187+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia 612370; CHARGE syndrome 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:18.879640+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AXL was added\ngene: AXL was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AXL was set to ",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-24T15:22:18.797446+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANOS1 was added\ngene: ANOS1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:48:06.416225+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Muscular dystrophy. Sources: Expert Review\nMode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 28554942; 28544275; 31604776\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia (MIM#617675)\nReview for gene: MSTO1 was set to GREEN\nAdded comment: >5 families reported. Early onset, elevated CK levels and myopathic patterns on EMG reported in almost all patients. Primarily a recessive disorder. Limited evidence supporting AD inheritance, which was reported in one family where CK levels were normal and age of onset was later. \r\n\r\nPMID: 31604776: One patient reported. Provides review of previously published MSTO1 families. \nSources: Expert Review",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:45:38.222621+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2703",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOLGA2 was added\ngene: GOLGA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA2 were set to PMID: 30237576; 26742501\nPhenotypes for gene: GOLGA2 were set to Neuromuscular disorder\nReview for gene: GOLGA2 was set to AMBER\nAdded comment: PMID: 30237576 - One 11 year old patient with a homozygous PTC.\r\nPatient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.\r\n\r\nPMID: 26742501 - One infant with a homozygous PTC.\r\nPatient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.\r\n\r\nSummary: 2 patients \nSources: Literature",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:43:00.368464+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOLGA2 was added\ngene: GOLGA2 was added to Muscular dystrophy. Sources: Literature\nMode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA2 were set to PMID: 30237576; 26742501\nPhenotypes for gene: GOLGA2 were set to Neuromuscular disorder\nReview for gene: GOLGA2 was set to AMBER\nAdded comment: PMID: 30237576 - One 11 year old patient with a homozygous PTC.\r\nPatient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.\r\n\r\nPMID: 26742501 - One infant with a homozygous PTC.\r\nPatient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.\r\n\r\nSummary: 2 patients + animal model \nSources: Literature",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:42:13.004904+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOLGA2 was added\ngene: GOLGA2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA2 were set to PMID: 30237576; 26742501\nPhenotypes for gene: GOLGA2 were set to Neuromuscular disorder\nReview for gene: GOLGA2 was set to GREEN\nAdded comment: PMID: 30237576 - One 11 year old patient with a homozygous PTC.\r\nPatient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.\r\n\r\nPMID: 26742501 - One infant with a homozygous PTC.\r\nPatient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.\r\n\r\nSummary: 2 patients + animal model \nSources: Literature",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:41:25.826020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOLGA2 was added\ngene: GOLGA2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA2 were set to PMID: 30237576; 26742501\nPhenotypes for gene: GOLGA2 were set to Nueromuscular disorder\nReview for gene: GOLGA2 was set to GREEN\nAdded comment: PMID: 30237576 - One 11 year old patient with a homozygous PTC.\r\nPatient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.\r\n\r\nPMID: 26742501 - One infant with a homozygous PTC. \r\nPatient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.\r\n\r\nSummary: 2 patients + animal model \nSources: Expert list",
"entity_name": "GOLGA2",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:25:30.307528+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FHL1 was added\ngene: FHL1 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: FHL1 were set to PMID: 19181672; 19171836\nPhenotypes for gene: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717\nReview for gene: FHL1 was set to AMBER\nAdded comment: XLD, severe progressive myopathy with onset in infancy.\r\n\r\nPMID: 19181672 - 11 patients (9 families) with reducing body myopathy. All patients had progressive muscle weakness with 7/11 having onset <5 years old. Majority had proximal muscle weakness with elevated CK levels. Authors note \"we would be hesitant to use the term dystrophic for this myopathy as the mechanisms of cell damage remain to be fully worked out\"\r\np.His123 is a hotspot with recurring de novo missense mutations at this residue.\r\n\r\nPMID: 19171836 - 5 patients with reducing body myopathy, 2/5 had fatal infantile forms of disease.\r\n\r\nSummary: congenital onset has been found, however unsure if this qualifies as a dystrophy or only myopathy \nSources: Expert list",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:17:49.850228+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: PLEC was added\ngene: PLEC was added to Muscular dystrophy. Sources: Expert Review\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEC were set to 20624679; 21109228; 28824526\nPhenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)\nAdded comment: Onset in early childhood (OMIM). \r\n\r\nPMID: 20624679: Reported 1 patient with congenital muscular dystrophy, hypotonia and elevated CK. \r\n\r\nPMID: 21109228: Same homozygous variant affecting isoform 1f reported in 3 families. 2 affected members of one family reported as having early onset LMGD. Authors note that PLEC is usually associated with late-onset progressive muscle dystrophy. \r\n\r\nPMID: 28824526: 1 patient reported with early childhood onset. Variant affects isoform 1f. \r\n\r\n\r\nRated GREEN in CMD (PanelApp UK) \nSources: Expert Review",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-06-24T13:07:02.581351+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EMD were set to PMID: 21697856; 31802929\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked\t310300\nReview for gene: EMD was set to GREEN\nAdded comment: PMID: 21697856 - 21 male patients with EM muscular dystrophy. Age of onset not well reported, only age at diagnosis. Youngest patient was 5 days old but asymptomatic, eldest was 55 years. \r\nOf those with age of onset reported, 3 had progressive muscle weakness onset from neonatal-5 years.\r\n\r\nPMID: 31802929 - 1 family (9 affected males) with elevated CK levels and mild skeletal muscular dystrophy. Youngest affected was 7 years old \r\n\r\nPMID: 31645980 - 1 patient with difficulty moving his limb girdle and cervical vertebrae from 5 years old.\r\n\r\nSummary: childhood onset reported \nSources: Expert list",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:37:11.442794+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.9",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27807076, 29034878; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:23:38.908310+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:23:33.317390+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: TCAP: Added comment: >3 variants/families reported. Mean age at onset 12.5 years (OMIM). More suitable for LGMD panel.\r\n\r\nPMID: 25055047: 2 different variants reported in 2 Dravidian families with LGMD, with a predominantly proximo - distal form of weakness. Raised CK levels consistent between all patients reported. Age of onset ranged from 4 - 23.\r\n\r\nAbstract (https://doi.org/10.1016/j.nmd.2012.06.100): Same frameshift variant reported in (PMID: 25055047) identified in one adult patient who presented with progressive muscle weakness in his late teenage years. Authors notes this is the 9th family reported with variants in this gene.\r\n\r\nPMID: 22029105: 1 adult patient with slowly progressive weakness in the upper and lower limbs reported with onset in early twenties. Elevated CK levels.\r\n\r\nPMID: 18948002: Reported one patient who presented at the age of 15 with progressive proximal limb weakness.; Changed rating: RED",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:21:13.640846+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23553484; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:04:30.209182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2703",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977; Phenotypes: Marinesco-Sjogren syndrome (MIM#248800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:03:07.041038+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.146",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16282977, 24176978; Phenotypes: Marinesco-Sjogren syndrome (MIM#248800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:57:59.042714+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SIL1 was added\ngene: SIL1 was added to Muscular dystrophy. Sources: Expert Review\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIL1 were set to 16282977; 24176978\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome\t(MIM#248800)\nAdded comment: Well reported in patients with the associated phenotype. Onset in infancy. Muscle weakness and elevated CK are consistent features of this phenotype. Myopathic changes observed in muscle biopsy. \nSources: Expert Review",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:33:45.983179+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Congenital onset described in at least two families.; to: Congenital onset described in at least two families with bi-allelic variants.",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:33:33.215853+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYNE1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:33:20.541547+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:32:04.781029+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:32:04.772103+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:32:01.404864+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE1 were changed from to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:30:35.915438+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE1 were set to ",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:30:31.275457+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.9",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25055047, 22029105, 18948002; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:30:12.094230+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:29:39.830543+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27782104, 19542096; Phenotypes: Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998; Mode of inheritance: None",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:12:14.711564+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ANO5 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-24T10:11:38.393553+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:11:38.377916+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Green List (High Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:11:36.360528+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319 to Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:11:26.623102+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANO5 were set to ",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:11:11.835973+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20096397 32399949; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 12 611307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-24T10:06:07.946858+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-24T09:51:10.419627+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.21",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25055047, 22029105, 18948002; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-24T09:40:18.157171+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.129",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DPM1 was added\ngene: DPM1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPM1 were set to PMID:16641202; 10642602; 10642597\nPhenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799\nAdded comment: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.\r\n\r\nPMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic\r\n\r\nPMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels. \nSources: Literature",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-06-24T09:10:02.950186+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.7",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-24T09:09:22.741993+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.21",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356)\nReview for gene: TRAPPC11 was set to GREEN\nAdded comment: >3 patients reported with variable muscle phenotype (primarily LGMD), which is a significant feature of this multisystemic childhood onset condition. Elevated CK consistent feature. \r\n\r\nPMID: 23830518: 2 different variants reported. Patients from one family presented with early onset proximal muscle weakness and raised CK levels. The second family presented with muscle weakness and elevated CK suggestive of myopathy.\r\n\r\nPMID: 26322222: Reported childhood onset muscular dystrophy in one patient\r\n\r\nPMID: 29855340: 1 patient with biallelic variants in TRAPPC11\r\n\r\nPMID: 30105108: 2 siblings with promixal muscle weakness reported. Childhood onset. \nSources: Expert list",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-06-23T13:29:43.938281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MUC7 as Red List (low evidence)",
"entity_name": "MUC7",
"entity_type": "gene"
},
{
"created": "2020-06-23T13:29:43.925424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: muc7 has been classified as Red List (Low Evidence).",
"entity_name": "MUC7",
"entity_type": "gene"
},
{
"created": "2020-06-23T12:55:31.822766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MUC7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma, protection against} MIM#600807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC7",
"entity_type": "gene"
},
{
"created": "2020-06-23T12:44:43.984132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HTR3D as ready",
"entity_name": "HTR3D",
"entity_type": "gene"
},
{
"created": "2020-06-23T12:44:43.971294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htr3d has been classified as Red List (Low Evidence).",
"entity_name": "HTR3D",
"entity_type": "gene"
},
{
"created": "2020-06-23T12:39:37.111785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HTR3D as Red List (low evidence)",
"entity_name": "HTR3D",
"entity_type": "gene"
},
{
"created": "2020-06-23T12:39:37.101840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htr3d has been classified as Red List (Low Evidence).",
"entity_name": "HTR3D",
"entity_type": "gene"
},
{
"created": "2020-06-23T12:39:11.602490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HTR3D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "HTR3D",
"entity_type": "gene"
},
{
"created": "2020-06-23T09:58:16.702254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALOX5AP as ready",
"entity_name": "ALOX5AP",
"entity_type": "gene"
},
{
"created": "2020-06-23T09:58:16.689195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alox5ap has been classified as Red List (Low Evidence).",
"entity_name": "ALOX5AP",
"entity_type": "gene"
},
{
"created": "2020-06-23T09:57:36.320882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALOX5AP as Red List (low evidence)",
"entity_name": "ALOX5AP",
"entity_type": "gene"
},
{
"created": "2020-06-23T09:57:36.310395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alox5ap has been classified as Red List (Low Evidence).",
"entity_name": "ALOX5AP",
"entity_type": "gene"
},
{
"created": "2020-06-23T09:56:31.720709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ALOX5AP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Stroke, susceptibility to} MIM#601367; Mode of inheritance: Unknown",
"entity_name": "ALOX5AP",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:31:30.514821+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:31:30.499760+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:31:26.741660+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Red List (low evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:31:26.728538+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:28:47.999734+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from ?Retinal arteries, tortuosity of MIM#180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:28:15.772280+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to 23065703; 20818663",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:27:39.073208+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Amber List (moderate evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:27:39.061172+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:26:10.783736+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAVIN1 were set to ",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:25:40.573892+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAVIN1: Changed publications: 19726876, 12116229",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:19:12.606850+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:19:12.596019+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Green List (High Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:19:08.927983+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANO5 as Green List (high evidence)",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:19:08.915369+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Green List (High Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:17:57.134968+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:17:57.123137+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Green List (High Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:17:43.099067+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SQSTM1 as Green List (high evidence)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:17:43.084269+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Green List (High Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:10:20.502040+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:10:20.491495+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:10:17.743654+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:09:48.496166+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JUP were set to ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:09:15.096936+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JUP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:06:59.108807+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA2 as ready",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:06:59.094761+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla2 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:06:52.382989+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNPLA2 as Green List (high evidence)",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:06:52.365015+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla2 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:05:44.165185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHOX2A as ready",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:05:44.153826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:05:36.869740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHOX2A were changed from to Fibrosis of extraocular muscles, congenital, 2 602078",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:05:17.019786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHOX2A were set to ",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:04:55.954961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHOX2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T20:04:37.935904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHOX2A as Amber List (moderate evidence)",
"entity_name": "PHOX2A",
"entity_type": "gene"
}
]
}